ATN1 (atrophin 1)

Gene

• Entrez ID: 1822
• Gene name: Atrophin 1
• Gene symbol: ATN1
• Synonyms (NCBI Gene): B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60216939	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA>-,GCA,GCAGCA,GCAGCAGCA,GCAGCAGCAGCA,GCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GCAGCAG	Conflicting-interpretations-of-pathogenicity, benign	Inframe insertion, coding sequence variant, inframe deletion
rs797044566	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1064795494	->AACCTG,GACCTG	Uncertain-significance, pathogenic	Inframe insertion, coding sequence variant
rs1555144357	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555144358	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555144360	T>G	Pathogenic	Missense variant, coding sequence variant
rs1565569158	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050303	hsa-miR-25-3p	CLASH	23622248
MIRT050031	hsa-miR-27a-3p	CLASH	23622248
MIRT046183	hsa-miR-27b-3p	CLASH	23622248
MIRT045454	hsa-miR-149-5p	CLASH	23622248
MIRT042044	hsa-miR-484	CLASH	23622248
MIRT040408	hsa-miR-615-3p	CLASH	23622248
MIRT038277	hsa-miR-361-3p	CLASH	23622248
MIRT038080	hsa-miR-423-5p	CLASH	23622248
MIRT037953	hsa-miR-505-5p	CLASH	23622248
MIRT036202	hsa-miR-320b	CLASH	23622248
MIRT806141	hsa-miR-1185	CLIP-seq
MIRT806142	hsa-miR-1207-5p	CLIP-seq
MIRT806143	hsa-miR-1224-3p	CLIP-seq
MIRT806144	hsa-miR-1228	CLIP-seq
MIRT806145	hsa-miR-1245b-3p	CLIP-seq
MIRT806146	hsa-miR-1265	CLIP-seq
MIRT806147	hsa-miR-1294	CLIP-seq
MIRT806148	hsa-miR-1343	CLIP-seq
MIRT806149	hsa-miR-1909	CLIP-seq
MIRT806150	hsa-miR-3130-3p	CLIP-seq
MIRT806151	hsa-miR-3150a-3p	CLIP-seq
MIRT806152	hsa-miR-3160-5p	CLIP-seq
MIRT806153	hsa-miR-3175	CLIP-seq
MIRT806154	hsa-miR-3180	CLIP-seq
MIRT806155	hsa-miR-3180-3p	CLIP-seq
MIRT806156	hsa-miR-3184	CLIP-seq
MIRT806157	hsa-miR-3196	CLIP-seq
MIRT806158	hsa-miR-34b	CLIP-seq
MIRT806159	hsa-miR-3605-5p	CLIP-seq
MIRT806160	hsa-miR-3658	CLIP-seq
MIRT806161	hsa-miR-3679-5p	CLIP-seq
MIRT806162	hsa-miR-3960	CLIP-seq
MIRT806163	hsa-miR-4286	CLIP-seq
MIRT806164	hsa-miR-4307	CLIP-seq
MIRT806165	hsa-miR-4315	CLIP-seq
MIRT806166	hsa-miR-4316	CLIP-seq
MIRT806167	hsa-miR-4425	CLIP-seq
MIRT806168	hsa-miR-4467	CLIP-seq
MIRT806169	hsa-miR-450b-3p	CLIP-seq
MIRT806170	hsa-miR-4652-3p	CLIP-seq
MIRT806171	hsa-miR-4667-5p	CLIP-seq
MIRT806172	hsa-miR-4691-3p	CLIP-seq
MIRT806173	hsa-miR-4700-5p	CLIP-seq
MIRT806174	hsa-miR-4728-5p	CLIP-seq
MIRT806175	hsa-miR-4763-3p	CLIP-seq
MIRT806176	hsa-miR-4778-5p	CLIP-seq
MIRT806177	hsa-miR-4793-3p	CLIP-seq
MIRT806178	hsa-miR-486-3p	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806180	hsa-miR-769-3p	CLIP-seq
MIRT806181	hsa-miR-933	CLIP-seq
MIRT806182	hsa-miR-939	CLIP-seq
MIRT806183	hsa-miR-3145-3p	CLIP-seq
MIRT806160	hsa-miR-3658	CLIP-seq
MIRT806184	hsa-miR-410	CLIP-seq
MIRT806185	hsa-miR-944	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806176	hsa-miR-4778-5p	CLIP-seq
MIRT806164	hsa-miR-4307	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806142	hsa-miR-1207-5p	CLIP-seq
MIRT806143	hsa-miR-1224-3p	CLIP-seq
MIRT806144	hsa-miR-1228	CLIP-seq
MIRT806149	hsa-miR-1909	CLIP-seq
MIRT2177525	hsa-miR-2110	CLIP-seq
MIRT2177526	hsa-miR-2467-3p	CLIP-seq
MIRT806150	hsa-miR-3130-3p	CLIP-seq
MIRT2177527	hsa-miR-3147	CLIP-seq
MIRT2177528	hsa-miR-3151	CLIP-seq
MIRT2177529	hsa-miR-3178	CLIP-seq
MIRT2177530	hsa-miR-3179	CLIP-seq
MIRT806154	hsa-miR-3180	CLIP-seq
MIRT806155	hsa-miR-3180-3p	CLIP-seq
MIRT806156	hsa-miR-3184	CLIP-seq
MIRT806157	hsa-miR-3196	CLIP-seq
MIRT2177531	hsa-miR-3202	CLIP-seq
MIRT2177532	hsa-miR-3591-5p	CLIP-seq
MIRT2177533	hsa-miR-3622b-5p	CLIP-seq
MIRT2177534	hsa-miR-3678-3p	CLIP-seq
MIRT2177535	hsa-miR-3945	CLIP-seq
MIRT806162	hsa-miR-3960	CLIP-seq
MIRT2177536	hsa-miR-4253	CLIP-seq
MIRT2177537	hsa-miR-4271	CLIP-seq
MIRT806163	hsa-miR-4286	CLIP-seq
MIRT2177538	hsa-miR-4447	CLIP-seq
MIRT806168	hsa-miR-4467	CLIP-seq
MIRT2177539	hsa-miR-4472	CLIP-seq
MIRT2177540	hsa-miR-4488	CLIP-seq
MIRT2177541	hsa-miR-4688	CLIP-seq
MIRT2177542	hsa-miR-4697-5p	CLIP-seq
MIRT2177543	hsa-miR-4725-3p	CLIP-seq
MIRT806174	hsa-miR-4728-5p	CLIP-seq
MIRT2177544	hsa-miR-4747-5p	CLIP-seq
MIRT806175	hsa-miR-4763-3p	CLIP-seq
MIRT806177	hsa-miR-4793-3p	CLIP-seq
MIRT806178	hsa-miR-486-3p	CLIP-seq
MIRT2177545	hsa-miR-491-5p	CLIP-seq
MIRT2177546	hsa-miR-648	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq
MIRT806179	hsa-miR-659	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10973986
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001906	Process	Cell killing	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	10973986
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	9647693, 10973986, 16713569, 17577209, 19131340, 20696395, 24981860, 27705803, 28514442, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10085113
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7647802
GO:0007283	Process	Spermatogenesis	IEA
GO:0007417	Process	Central nervous system development	TAS	7647802
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016363	Component	Nuclear matrix	IDA	10973986
GO:0016477	Process	Cell migration	IEA
GO:0019904	Function	Protein domain specific binding	IPI	11984006
GO:0030011	Process	Maintenance of cell polarity	IEA
GO:0032094	Process	Response to food	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051402	Process	Neuron apoptotic process	IDA	10085113
GO:0070161	Component	Anchoring junction	IEA

Other IDs

• MIM: 607462
• HGNC: 3033
• e!Ensembl: ENSG00000111676

Protein

• UniProt ID: P54259
• Protein name: Atrophin-1 (Dentatorubral-pallidoluysian atrophy protein)
• Protein function: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03154	Atrophin-1	1 → 159	Atrophin-1 family	Disordered
  PF03154	Atrophin-1	403 → 1189	Atrophin-1 family	Disordered

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus c
• Sequence:

  MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVE
  EASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSD
  PRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPE
  ASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGA
  ASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN
  LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLP
  PASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV
  SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHH
  HHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLR
  PYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP
  FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPG
  SPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPP
  LSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARS
  DLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK
  LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR
  NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPL
  HGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAER
  LAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLI
  DPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQL
  QAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL

• Sequence length: 1190

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
ATN1-related disorder	Likely pathogenic; Pathogenic	rs2138219961, rs1555144358	RCV004548172 RCV003335528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital ATN1 related disorder	Pathogenic; Likely pathogenic	rs1555144357, rs1555144358, rs1555144360, rs1565569158	RCV000659259 RCV000659260 RCV000659261 RCV000779621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	Likely pathogenic; Pathogenic	rs2138219892, rs2138219913, rs967375653, rs2138219961, rs797044566, rs1555144357, rs1555144358, rs1565569158	RCV001594416 RCV001594417 RCV001644985 RCV001644986 RCV001644987 RCV000787320 RCV000787317 RCV000787318 RCV000787321	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dentatorubral-pallidoluysian atrophy	Likely pathogenic; Pathogenic	rs2138219961	RCV002246305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DENTATORUBRAL PALLIDOLUYSIAN ATROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked hydrocephalus syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	29303765		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	15471948		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11274760, 12921954, 16249383, 17459472, 20406497, 20573277, 20844239, 22200740, 22570713, 23728349, 24700491, 29594684		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	16234360		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22053203		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	30584364		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29632636		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27613526, 30613269		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	12668127		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11274760, 16249383, 17459472, 20844239, 22200740, 22570713, 23728349, 29594684		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	12594818		★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	23527265		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16943297, 17764832, 19068089, 19584402, 21325484, 21453388, 3260813		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	12366864		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	28100959		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	21552147		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32271912	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	11681493		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	15145214		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31682238		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29288236, 30325864		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	6241212		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25188917, 29880500, 30179603		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	1627786, 30233578		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	31170010		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27717665		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11389071		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	10712199, 10942107, 11697524, 16251216, 22971727, 24972706, 26077168, 29236168		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	16967484		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25188917, 29880500		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29506740		★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29692782		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	10047432, 11681493, 12383988, 12724345, 12849007, 15467836, 15489956, 15763989, 16257508, 16306346, 16751419, 17499268, 18301381, 19811893, 21317396, 22878274, 23475565, 26732858, 27173733, 27859048, 28375156, 28851631, 29158418, 29415894, 29651443, 30250175, 30566234, 30899071, 31087105, 9128175		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	19818584, 28363255, 29052174, 30566234		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	29158418		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	21777350		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25185261		★☆☆☆☆ Found in Text Mining only
Benign adult familial myoclonic epilepsy	Benign Myoclonic Epilepsy	BEFREE	8825056		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24166682		★☆☆☆☆ Found in Text Mining only
Blau syndrome	Blau syndrome	Pubtator	19116920	Associate	★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	17657224		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	21617384		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15549107		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18685093, 19149630, 22678162, 23053664, 23967178, 28151486, 29675931, 30635686, 31125679, 31332944, 31433759, 31821346		★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	15507526, 29407771		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25933107	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15704102		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24166682		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24410728, 27613526, 30453282		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17336323, 23098491		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	22948834		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	30358704		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31078652, 31676023		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	19811893		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16751419		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	GENOMICS_ENGLAND_DG	30827498		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21317920, 29296172		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21317920, 29296172		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	29330883	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11274760, 16249383, 17459472, 20844239, 21295523, 22200740, 22570713, 23728349, 29594684		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	22383738		★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	23527265		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	25922834		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	28526333		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	12829597, 28264583		★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	25477279		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12037436		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	12037436, 28628921		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19153855, 21692849, 22875025, 25827173, 26068951, 28496009, 31842407		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	19762257		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28029680, 31722531		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30827498	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30936146		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14555530, 18097554, 21532339, 24798995, 27452288, 31200749		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24278200, 28445481, 28507809, 30763370, 31796022		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22351745		★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7589844		★☆☆☆☆ Found in Text Mining only
Complement component 3 deficiency	C3 Deficiency	BEFREE	17675493		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	16751419		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	GENOMICS_ENGLAND_DG	30827498		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	24200848		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30903318		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	20403135, 21146253, 22447396, 30578751, 31169706		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33232439	Associate	★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	22193915, 28229991, 29951964, 31194989		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31454256		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral pallidoluysian atrophy	Dentatorubral Pallidoluysian Atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	10085113, 10434299, 11128606, 11331249, 11696439, 11843701, 12464607, 12488827, 16407196, 17420317, 17961920, 19039037, 19681162, 20339376, 20500452, 20977674, 21577324, 21827919, 21909428, 22134925, 22342974, 22971727, 23754232, 24264405, 24981774, 26538302, 26679169, 29236168, 29686598, 30153072, 30325864, 30827498, 31374462, 31767406, 7633415, 7995938, 8651298, 8925251, 8965642, 9109905, 9187480, 9409354, 9462738, 9887337, 9949204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depressive disorder	Mental Depression	BEFREE	28585930, 28780410, 31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30827498, 37491839, 38262122	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10360969, 10415571, 10535448, 10580417, 10580421, 10593571, 10677244, 10679087, 10746656, 10868975, 11016460, 11409710, 11681493, 12515288, 12727928, 14679045, 14709415, 15144890, 15220191, 15467836, 15763989, 15814708, 16123376, 16306346, 17164779, 17911589, 17947667, 18299317, 18400329, 18420485, 19050246, 19199942, 20086228, 21317396, 21346176, 21499838, 21689905, 21745722, 21896930, 22019586, 22043012, 22484814, 23437231, 23647015, 23710469, 24018334, 24264405, 24559924, 24612609, 25623266, 2642771, 27069933, 27634616, 27694496, 27859048, 27927966, 28045060, 28193789, 28280903, 28292965, 28542921, 28580535, 28779211, 29030662, 29133420, 29259102, 29381419, 29415894, 29439835, 29445851, 29514172, 29527189, 29543915, 29546475, 29671030, 29717116, 29802270, 29998909, 30065030, 30084830, 30094467, 30131391, 30498495, 30518692, 30796028, 30899071, 31061237, 31087105, 31095320, 31127035, 31410530, 31419705, 7931087, 8100786, 8109840, 8975715, 9128175, 9421372		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10360969, 10415571, 10535448, 10580417, 10580421, 10593571, 10677244, 10679087, 10746656, 10868975, 11016460, 11409710, 11681493, 12515288, 12727928, 14679045, 14709415, 15144890, 15220191, 15467836, 15763989, 15814708, 16123376, 16306346, 17164779, 17911589, 17947667, 18299317, 18400329, 18420485, 19050246, 19199942, 20086228, 21317396, 21346176, 21499838, 21689905, 21745722, 21896930, 22019586, 22043012, 22484814, 23437231, 23647015, 23710469, 24018334, 24264405, 24559924, 24612609, 25033230, 25623266, 2642771, 27069933, 27634616, 27694496, 27859048, 27927966, 28045060, 28193789, 28280903, 28292965, 28542921, 28580535, 28748382, 28779211, 29030662, 29133420, 29259102, 29381419, 29415894, 29439835, 29445851, 29514172, 29527189, 29543915, 29546475, 29671030, 29717116, 29802270, 29998909, 30065030, 30084830, 30094467, 30131391, 30498495, 30518692, 30796028, 30899071, 31061237, 31087105, 31095320, 31127035, 31410530, 31419705, 7931087, 8100786, 8109840, 8975715, 9128175, 9421372		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27508393, 32271912, 37223012	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10580421, 10746656, 10868975, 11409710, 11681493, 11781358, 11812740, 12515288, 12727927, 12727928, 14679059, 1503608, 15142525, 15210771, 15220191, 15467836, 15608258, 15634904, 15729364, 15814708, 16188504, 16257508, 16493034, 16493087, 17127455, 17130531, 17130571, 17911589, 17949261, 18056379, 18268045, 18301381, 18481948, 18679630, 18714012, 19050246, 19661066, 19903740, 19966211, 20012396, 21169553, 21277980, 21745722, 21896930, 21911598, 22105491, 23071669, 23437231, 23626013, 23710469, 23819540, 24335553, 24559924, 25305319, 25430610, 25958206, 26224624, 2642771, 26438525, 26773144, 26824049, 26881431, 27069933, 27082999, 27150089, 27207523, 27348411, 27693017, 27859048, 27920091, 28081180, 28143555, 28289409, 28363777, 28363905, 28375156, 28461573, 28539428, 28542921, 28646042, 28799767, 28851631, 28887632, 28916112, 28947964, 29055002, 29109122, 29158420, 29431690, 29472249, 29527189, 29563329, 29651443, 29671030, 29774025, 29802270, 29845333, 29942088, 29955175, 29998909, 30034402, 30035128, 30039798, 30084830, 30094467, 30122420, 30127089, 30131391, 30681867, 30899071, 30936146, 30964447, 31025045, 31061237, 31070990, 31076529, 31087105, 31127035, 31190158, 31191514, 31281853, 31311801, 31324724, 31419705, 31473255, 31486854, 31568613, 31586207, 31593953, 31601915, 31732921, 31792829, 31821046, 7589844, 7931087, 8288043, 9480726		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17949261, 19817793, 27508393, 29860862, 30325864, 31777896		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	10360969, 10535448, 10746656, 11489950, 12727927, 12727928, 15557158, 15729364, 15763989, 17337779, 18481948, 22355341, 23071669, 24335553, 26910463, 27207523, 27634616, 27710840, 27859048, 28455654, 28733313, 28779211, 28931462, 29030662, 29095944, 29133420, 29158420, 29321370, 29527189, 29543915, 29546475, 29845333, 29867981, 30518692, 30623001, 31109955, 31254568, 31327552, 31344283, 31369695, 31473255, 7589844, 8666150, 9761385		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31017263		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	21494621		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24375627		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	22354378		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20646321		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	14967857	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30827498	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	38262122	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29370817		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29370817		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28286209		★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31601915		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28499273		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	24636398		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	24104560, 27502441		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	9429138		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	15763989		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25381437, 27391353, 28173797, 28751450, 30961616, 31509308		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25541984, 26617336, 27391353, 28173797, 28751450, 31509308		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24408016, 28233643, 30961616		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23710469		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30827498		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	11681493		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	17764813, 23265769, 24033923, 25596424, 25630940, 26508783, 27560708, 28665482, 28729148, 29366627, 30393022, 30651340, 30772305, 31730699		★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	12393624, 12829597, 17728796, 28077679		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30944161		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	26763448, 28892093		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	19818584, 28363255, 29052174, 30566234, 31729993		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29330883	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27622570, 29330883	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28985760		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	17077140		★☆☆☆☆ Found in Text Mining only
Hepatorenal Syndrome	Hepatorenal Syndrome	BEFREE	29303765, 29668606, 30871566		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12594818, 1692251		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	31376208		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11342385, 18651325		★☆☆☆☆ Found in Text Mining only
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	18651325		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18563383, 22897387, 23710469, 23819540, 25187368, 26224624, 26676482, 28533295, 29030662, 29410956, 30110202, 30122420, 30964447, 31311801, 31625631		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28352127		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29740155		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 13	Immunodeficiency	BEFREE	31341106		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10679087, 11342452, 11817610, 11945061, 12558785, 15308121, 16123376, 16996314, 17261813, 18096436, 18563383, 18931683, 21447729, 21574869, 22551777, 22707082, 22724276, 22996742, 23755121, 23801032, 23867470, 24094487, 24513265, 24593860, 24673799, 24712440, 24726647, 24798995, 24955581, 25344228, 25501993, 25712215, 25819560, 25827173, 26048777, 26868125, 26962219, 27041577, 27815443, 27879207, 28352127, 28499126, 28600813, 28665482, 28754817, 28892093, 29222435, 29430789, 29553548, 29576341, 29628927, 29743205, 29806632, 30273859, 30353512, 30687320, 30771426, 30793967, 30975914, 31001750, 31724735, 31781050, 9694728		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21552281, 30937839, 31169706		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	28422189, 34978330	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	14967857	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30827498		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	21911598		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	26005048		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	15982344		★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	25398822		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	16794734		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	26604661		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27819323		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28844314, 29303765, 30606404, 31125561		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12037436		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	22996664		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	31209257		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12682634, 15759039, 16020516, 16234360, 16875930, 17041602, 19427857, 19679884, 20028384, 20924124, 21295523, 21777350, 22383738, 23728349, 23867470, 24278314, 25344228, 25355291, 25359989, 25682198, 26224647, 26288837, 26892465, 28183848, 29737430, 30674535, 31215501		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11146161, 12200698, 12682634, 15621811, 15958691, 16079892, 16234360, 16321850, 17408461, 17532885, 18261837, 19277587, 19626050, 20924124, 21157036, 21562049, 22064349, 23867470, 25062630, 27085528, 28729148, 28985760, 29138222, 29346508, 29433559, 29721667, 30125602		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17764832, 19429977		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	10232735		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20525879, 23435877, 23887606, 27050273, 28358369		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24104560, 29303765		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32271912	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	1503608		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	1503608		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11681493, 1503608, 18714012, 30403914		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30755075		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	1503608		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	24700491		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10679087, 12756297, 25819560		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	17641067, 27935859		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	25964488		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10861091		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	12614315, 24972706		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	LHGDN	16967484		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	24305507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18685093, 19149630, 22678162, 23053664, 23967178, 28151486, 29675931, 30635686, 31125679, 31332944, 31424661, 31433759, 31821346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20646321		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29370817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24410728, 27613526, 30453282		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17336323, 23098491		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23200667, 24435915, 25409614, 28609371, 29113292, 29386037, 30091943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23014529, 28042317, 28438626, 28902490, 29775627, 31032634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19397946, 24901306		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	17336323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24166682		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21118981, 24513265, 25531323, 25819560, 28030837, 29932968, 30098419, 30548868, 31465982, 31526394		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21317920, 29296172		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18097554, 21532339, 24798995, 27452288, 31200749		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22824293		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	23963361, 24305507		★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21541354, 23877751, 28435246, 30647079		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28585930, 28780410, 31768550, 6241212		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	24260412		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	12829597		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	37491839	Associate	★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	12615073, 28229991		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis VII	Mucopolysaccharidosis	BEFREE	12406886		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10648422, 14630803, 17657224, 20200563, 21816470, 21923911, 23469177, 23479461, 24223204, 24586944, 24625985, 27072234, 28056549, 28492559, 30926963		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28736194, 28988323		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	27725110		★☆☆☆☆ Found in Text Mining only
MYD88 Deficiency	MYD88 Deficiency	BEFREE	30250175		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12620294, 14962905, 27693669		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	17077140		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	24778155, 25133686, 27492973, 27852702, 9694728		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20170959		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26457413		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	16751419, 17499268, 19811893		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	14967857		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	9287147		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	37223012	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29329342, 30405107		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10386866, 11960290, 12444101, 12444102, 12594818, 15170886, 15242530, 15549107, 15704102, 16108827, 16390867, 16799977, 16827803, 16856916, 1692251, 17107337, 17332360, 17336323, 17573968, 17875719, 18843207, 19001278, 19229289, 19265131, 19326440, 19411762, 19451087, 19509143, 19841177, 19913993, 20229177, 20231822, 20525879, 20564316, 20587144, 21177767, 21178508, 21304978, 21494621, 21532339, 21552147, 21617384, 21691263, 21701930, 21880559, 21894438, 21932402, 22020330, 22114688, 22159714, 22241175, 22454501, 22470469, 22666492, 22932665, 22952578, 22952867, 23064049, 23085629, 23097274, 23200667, 23233126, 23437259, 23444212, 23445611, 23527265, 23625283, 23874578, 23887606, 23967178, 24086245, 24214898, 24278200, 24492297, 24504111, 24516569, 24567196, 24625985, 24647545, 24766194, 24798995, 25623554, 25738369, 25893296, 26068418, 26119785, 26282902, 26310246, 26334999, 26515462, 26518164, 26726024, 26768118, 26910843, 27041577, 27272409, 27447749, 27542264, 27705906, 27779203, 27835865, 27835894, 28033430, 28060756, 28183348, 28185834, 28198009, 28286209, 28358369, 28397012, 28412732, 28417956, 28435246, 28666189, 28754817, 28803993, 28830537, 28902490, 28919991, 28945304, 29207978, 29233905, 29288236, 29415982, 29501600, 29515790, 29568390, 29617099, 29628341, 29675931, 29694502, 29725263, 29765542, 29775627, 30238564, 30430577, 30509303, 30545413, 30549430, 30562733, 30574973, 30713799, 30911287, 30926963, 30929299, 31002510, 31215501, 31254372, 31254933, 31278946, 31462307, 31526394, 31606408, 31655033, 31701557, 31774721, 31796022, 31847937		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	26048777		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19679884		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	12444101		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17710228, 19411762, 22210712, 27183205, 27756784, 29207662		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12722924, 14645126, 16407196, 29686598		★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	BEFREE	29330883		★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	16858508		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	12444102		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23647015, 28499273		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19118029, 26124487, 27542268, 30584364, 31221816		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28499273		★☆☆☆☆ Found in Text Mining only
Nuchal bleb, familial	Nuchal Bleb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23801032, 26052894		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	23527265		★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome 9	Orofaciodigital syndrome	Pubtator	30827498	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21617384, 28934267		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	24652041		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17336323		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30791852		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21869825, 23098491		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	28902490		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23200667, 24435915, 25409614, 28609371, 29113292, 29386037, 30091943		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30153072, 30325864		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23129257, 24214898, 24647545		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	26253076		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31645584		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	28526333		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29024797, 31689812		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19755917		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28791669		★☆☆☆☆ Found in Text Mining only
Pleuropulmonary blastoma	Pleuropulmonary blastoma	BEFREE	31477684		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	BEFREE	14679179		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	25051372		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	17764815, 20170959		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	28427458	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	21494254		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	21494254, 21606482		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11274760, 12921954, 17459472, 24700491, 29594684		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	17003368, 25355291		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	26079416		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	16636131, 21169553, 29158418		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	15471948, 17077140, 17764815, 20858855		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	22520093		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28042317, 28438626, 28902490, 29775627, 31032634		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17332360, 20564316, 27447749, 28042317		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30393369		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28057018	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	29430721		★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	22019586		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30877711		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30871566		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28258056, 30153072		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11817610, 22019586, 26005048, 27508393		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26173023		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	8925251, 9184318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	21469088		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38262122	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29330883		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10609654, 10679087, 12384415, 17336323, 19143028, 22078574, 22551777, 24223204, 26119785, 28800593, 29509055, 30111561, 30125602, 31099257, 31257988		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	26005048		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia	BEFREE	26077168		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	14763955, 17961920, 18651325, 26077168		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	21909428, 9184318		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	24972706		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27885834		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23021083		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31601915		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19397946, 24901306		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28526333		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	20874104, 23212524, 24375627, 27879207, 29105400, 31572124, 31601830		★☆☆☆☆ Found in Text Mining only
Thyroid hemiagenesis	Thyroid hemiagenesis	BEFREE	30283736		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	10202044, 12126634, 20087681, 26287317, 28363255, 29181619, 29253821, 31184281, 31560118, 9623732		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30929299		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29282132, 30322872, 31169706		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	24636398, 31754172		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	22267972, 22447862, 28455241, 29233905		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	BEFREE	19657978		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	24867262		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	26005048		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	26005048		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	23527265		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	22551777		★☆☆☆☆ Found in Text Mining only