WWOX (WW domain containing oxidoreductase)

Gene

• Entrez ID: 51741
• Gene name: WW domain containing oxidoreductase
• Gene symbol: WWOX
• Synonyms (NCBI Gene): D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1
• Chromosome: 16
• Chromosome location: 16q23.1-q23.2
• Summary: This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75559202	C>G	Benign, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs79771882	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs117209694	C>G,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs119487098	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs140817689	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs186745328	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs201008667	C>G,T	Likely-pathogenic, pathogenic	Missense variant, 5 prime UTR variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs368928190	C>G,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs369907002	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs587777128	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs587777248	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, intron variant
rs730880290	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs730880291	GACG>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs730880292	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs730882215	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs751181600	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs756762196	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs759766243	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, stop gained, synonymous variant
rs878855021	C>G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs886039653	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs990150249	C>G	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1039151413	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs1057517846	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, intron variant
rs1057518795	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060502727	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1064795117	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1131691285	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1164465811	G>A,C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1300924648	G>A,T	Pathogenic	Non coding transcript variant, splice donor variant
rs1555532979	TAAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant, 5 prime UTR variant
rs1555535072	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, stop gained
rs1567542020	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1597207802	A>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1597207871	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1597216056	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT736037	hsa-miR-92a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31456594
MIRT1494822	hsa-miR-1302	CLIP-seq
MIRT1494823	hsa-miR-149	CLIP-seq
MIRT1494824	hsa-miR-2115	CLIP-seq
MIRT1494825	hsa-miR-2116	CLIP-seq
MIRT1494826	hsa-miR-24	CLIP-seq
MIRT1494827	hsa-miR-3064-5p	CLIP-seq
MIRT1494828	hsa-miR-3145-3p	CLIP-seq
MIRT1494829	hsa-miR-320e	CLIP-seq
MIRT1494830	hsa-miR-3652	CLIP-seq
MIRT1494831	hsa-miR-3938	CLIP-seq
MIRT1494832	hsa-miR-4264	CLIP-seq
MIRT1494833	hsa-miR-4272	CLIP-seq
MIRT1494834	hsa-miR-4284	CLIP-seq
MIRT1494835	hsa-miR-4298	CLIP-seq
MIRT1494836	hsa-miR-4311	CLIP-seq
MIRT1494837	hsa-miR-4430	CLIP-seq
MIRT1494838	hsa-miR-4505	CLIP-seq
MIRT1494839	hsa-miR-4639-5p	CLIP-seq
MIRT1494840	hsa-miR-4677-5p	CLIP-seq
MIRT1494841	hsa-miR-4717-5p	CLIP-seq
MIRT1494842	hsa-miR-4793-5p	CLIP-seq
MIRT1494843	hsa-miR-498	CLIP-seq
MIRT1494844	hsa-miR-516a-3p	CLIP-seq
MIRT1494845	hsa-miR-622	CLIP-seq
MIRT1494846	hsa-miR-670	CLIP-seq
MIRT1494847	hsa-miR-892b	CLIP-seq
MIRT1494848	hsa-miR-122	CLIP-seq
MIRT1494849	hsa-miR-1587	CLIP-seq
MIRT1494850	hsa-miR-1909	CLIP-seq
MIRT1494851	hsa-miR-1915	CLIP-seq
MIRT1494852	hsa-miR-3135b	CLIP-seq
MIRT1494853	hsa-miR-3665	CLIP-seq
MIRT1494854	hsa-miR-3944-5p	CLIP-seq
MIRT1494855	hsa-miR-4417	CLIP-seq
MIRT1494856	hsa-miR-4492	CLIP-seq
MIRT1494857	hsa-miR-4498	CLIP-seq
MIRT1494858	hsa-miR-4656	CLIP-seq
MIRT1494859	hsa-miR-4675	CLIP-seq
MIRT1494860	hsa-miR-4726-3p	CLIP-seq
MIRT1494861	hsa-miR-4741	CLIP-seq
MIRT1494862	hsa-miR-762	CLIP-seq
MIRT1494863	hsa-miR-764	CLIP-seq
MIRT2369586	hsa-miR-1913	CLIP-seq
MIRT2369587	hsa-miR-324-3p	CLIP-seq
MIRT2369588	hsa-miR-4313	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Repression	15044096

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	ISS	19366691
GO:0005515	Function	Protein binding	IPI	15064722, 15070730, 15580310, 16061658, 19465938, 25678599, 30285739, 32296183, 32814053, 33961781, 34819669
GO:0005634	Component	Nucleus	IDA	19366691
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	19465938
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	15064722, 30285739
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA	19366691
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	19366691
GO:0005902	Component	Microvillus	IDA	19366691
GO:0006915	Process	Apoptotic process	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016491	Function	Oxidoreductase activity	NAS	10861292
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	19366691
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	19465938
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	ISS
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	19366691
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS	19366691
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	ISS
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 605131
• HGNC: 12799
• e!Ensembl: ENSG00000186153

Protein

• UniProt ID: Q9NZC7
• Protein name: WW domain-containing oxidoreductase (EC 1.1.1.-) (Fragile site FRA16D oxidoreductase) (Short chain dehydrogenase/reductase family 41C member 1)
• Protein function: Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in T
• PDB: 1WMV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00397	WW	18 → 47	WW domain	Domain
  PF00397	WW	59 → 88	WW domain	Domain
  PF00106	adh_short	125 → 268	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Strongly expressed in testis, prostate, and ovary. Overexpressed in cancer cell lines. Isoform 5 and isoform 6 may only be expressed in tumor cell lines. {ECO:0000269|PubMed:10786676, ECO:0000269|PubMed:11719429}.
• Sequence:

  MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLP
  YGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGR
  DFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAM
  TLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV
  QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCN
  ILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTV
  YCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG

• Sequence length: 414

Pathways

Reactome:

Nuclear signaling by ERBB4
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors

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
Abnormal facial shape	Pathogenic	rs730882215	RCV000162124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1295198168, rs373306276, rs199628364	RCV001814482 RCV001814359 RCV001814252	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive spinocerebellar ataxia 12	Likely pathogenic; Pathogenic	rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777127, rs587777128, rs587777248, rs867163041, rs2151934194, rs2151674791, rs770155582, rs1377640182, rs730880291, rs730882215, rs1232899835, rs758588684, rs2032287989, rs2507125143, rs2507632091, rs2507406750, rs751181600, rs878855021, rs756762196, rs368928190, rs2507407106, rs2507630439, rs2507126639, rs2507402150, rs1057517846, rs1057518795, rs1060502727, rs990150249, rs1064795117, rs201008667, rs1039151413, rs1567542020, rs1300924648, rs1597216056, rs1597207802, rs199628364, rs1394607357, rs2051756247	RCV001378782 RCV001378810 RCV001380098 RCV001384684 RCV000087048 RCV000087049 RCV000824131 RCV001958834 RCV001993945 RCV002007496 RCV001895441 RCV002222278 RCV001850176 RCV001220865 RCV003064358 RCV002570027 RCV002666550 RCV002780125 RCV002853268 RCV003021516 RCV003042824 RCV000490293 RCV000234306 RCV000229073 RCV001385286 RCV003792092 RCV003805646 RCV003797616 RCV003802342 RCV001850983 RCV001861445 RCV000458905 RCV001221428 RCV001381454 RCV000798699 RCV000703936 RCV000703935 RCV000688699 RCV000850618 RCV003117661 RCV000991459 RCV001389252 RCV001211320 RCV001232173	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brain atrophy	Pathogenic	rs730882215	RCV000162124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777248, rs867163041, rs2151934194, rs2151674791, rs770155582, rs730880291, rs730882215, rs1232899835, rs758588684, rs2032287989, rs2507125143, rs2507632091, rs2507406750, rs878855021, rs756762196, rs368928190, rs2507407106, rs2507630439, rs2507126639, rs2507402150, rs1057517846, rs1057518795, rs1060502727, rs990150249, rs1064795117, rs201008667, rs1039151413, rs587777127, rs1567542020, rs1300924648, rs1597207871, rs1597216056, rs199628364, rs1394607357, rs2051756247	RCV001378782 RCV001378810 RCV001380098 RCV001384684 RCV000824131 RCV001958834 RCV001993945 RCV002007496 RCV001895441 RCV001850176 RCV001220865 RCV003064358 RCV002570027 RCV002666550 RCV002780125 RCV002853268 RCV003021516 RCV003042824 RCV000234306 RCV000229073 RCV001385286 RCV003792092 RCV003805646 RCV003797616 RCV003802342 RCV001850983 RCV001861445 RCV000458905 RCV001221428 RCV001381454 RCV000798699 RCV000703936 RCV000703935 RCV000688699 RCV000989638 RCV000989639 RCV000989641 RCV001389252 RCV001211320 RCV001232173	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 28	Likely pathogenic; Pathogenic	rs752354290, rs767732033, rs1164465811, rs1284883505, rs373306276, rs587777127, rs587777248, rs375757102, rs2051753978, rs1060502727, rs765339835, rs1377640182, rs730880290, rs730880291, rs730880292, rs730882215, rs2507406750, rs756762196, rs765544833, rs368928190, rs759766243, rs1057518795, rs1064795117, rs201008667, rs1039151413, rs1555532979, rs1300924648, rs1597216056, rs1597207802, rs199628364, rs775696083	RCV001335818 RCV003223420 RCV005256530 RCV005256531 RCV005256532 RCV005256520 RCV005256533 RCV000106406 RCV001800162 RCV001814616 RCV001824210 RCV001824212 RCV002222278 RCV000157086 RCV000157087 RCV000157088 RCV000408849 RCV003992698 RCV000763386 RCV003225626 RCV005256522 RCV001198241 RCV001198240 RCV001796062 RCV005256523 RCV002527597 RCV000850619 RCV005256524 RCV001253496 RCV000585670 RCV000850618 RCV003325982 RCV000991459 RCV001004706 RCV001253748	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental delay	Likely pathogenic	rs2507125596	RCV003154292	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early Infantile Epileptic Encephalopathy, Autosomal Recessive	Pathogenic; Likely pathogenic	rs1232899835, rs199628364	RCV006262597 RCV002307653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs759766243, rs1057518795	RCV000415297 RCV000415161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal squamous cell carcinoma	Pathogenic	rs730882215	RCV004798788	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs730882215	RCV000162124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic; Likely pathogenic	rs2151386374, rs756762196, rs1131691285, rs1597207802, rs199628364	RCV002246819 RCV000763386 RCV005899780 RCV000991459 RCV002249620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs375757102, rs1567625065	RCV002274210 RCV002274439	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorders	Pathogenic	rs1394607357	RCV001814273	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
West syndrome	Likely pathogenic; Pathogenic	rs1300924648	RCV003489939	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WWOX-related diosrder	Pathogenic	rs587777248	RCV005862977	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WWOX-related disorder	Pathogenic; Likely pathogenic	rs730882215, rs756762196, rs2507215578, rs1300924648, rs199628364	RCV003398828 RCV004752809 RCV003399867 RCV005870932 RCV003411947	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY PARTIAL GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal squamous cell carcinoma, somatic	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive myositis ossificans	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLOGIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	22071891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Confusional Senile Dementia	Senile Dementia	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23525648		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15814586		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31481498		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22193544, 34852950, 35627222, 36553611, 38232788, 40139278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	16223882		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease, Focal Onset	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30158849		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24503545	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia	Ataxia	Pubtator	25802472	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	28721938, 30356099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	19080258		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27569545, 32081867	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27569545, 30350478, 30949922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	Cerebellar Ataxia, Epilepsy, Mental Retardation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	20647332		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	20647332	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of esophagus	Benign neoplasm of esophagus	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15674328, 22248280, 27352332		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	15674328, 18452537		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brain Diseases	Brain disease	Pubtator	27495153, 29852413, 30362252, 34268881, 37974179	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10786676, 11719429, 11896615, 14695174, 15580310, 15674328, 15692750, 16360296, 17200365, 17909041, 19080258, 19188760, 19357348, 20401669, 21347750, 21983861, 23254778, 24330518, 24932569, 25678599, 28045433, 30082886, 30154439, 30285739, 30335523, 30622118, 31075076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17200365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15064722, 20401669	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15073846, 15692750, 19130459, 19188760, 21347750, 22806168, 25417742, 30285739, 35290621, 37248434	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Urinary Tract	Urinary Tract Cancer	CTD_human_DG	23618899		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	14526170, 20535528	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16152610, 16187332, 16895604, 18047428, 18061530, 18629536, 19188760, 20480411, 23370280, 29164763, 29310145, 35290621, 35563688	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18437686, 22213016, 23197378, 27352332		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	20401669	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15266310, 24969559, 26010871, 28426730, 30242144, 32931356, 36587184	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18620777, 22736928	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of esophagus	Esophageal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	15692750	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15674328, 22248280, 27352332		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12591741, 15674328, 16223882, 17890317, 20367991, 20480411, 22693020, 23339925, 24473991, 26516139, 27834355, 31315632, 31481498		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	15870886, 27190995, 28749468	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24008736	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11572989, 15870886, 22317867, 25891642, 27190995, 28280357, 28749468		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19700237, 30013442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	19700237, 30013442		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27094129		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18629536, 25502636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	18629536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18629536, 25502636	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	22555346		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26345274, 30361190		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33958783, 40139278	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18273838, 21570414, 24938873		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	24938873	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21347750, 28386169, 30859622		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21347750, 22860045, 24938873, 26010871, 39332629	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30853297		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22555346		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	24098343	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30820047		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	34852950, 37328865	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27495153, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30755385		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	21520031		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	22071891	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	15998374		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31340538		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	24932569		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	33612478	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	30853297		★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	BEFREE	29152092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Encephalopathies	Epileptic encephalopathy	BEFREE	25411445, 26499798, 28721938, 30094525		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	24126431, 25892250, 26820701		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24369382, 24456803, 25403906, 30094525, 30746283, 31340538		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	24456803, 25802472, 27495153, 37095367, 40191585	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25716914, 27495153, 29808465, 30094525, 30356099, 30361190, 30853297		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34268881	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	Epileptic encephalopathy	CLINVAR_DG	24456803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	24456803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28	Epileptic encephalopathy	UNIPROT_DG	25411445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28	Epileptic encephalopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28	Epileptic encephalopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	15870886, 22317867, 27190995, 28280357, 28749468		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	15044096		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30350478		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18629536, 25502636		★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	18519675		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	15661754		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	15661754		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	21165567		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24127039		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	15131042		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	23197378		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20535528, 22898080, 25051421		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20535528, 24503545, 25051421, 25595187, 31456594	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20535528, 22898080, 25051421, 25432984		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24044959, 24585490, 25432984, 26910372		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26910372	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27495153, 29808465, 30746283		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	24456803, 27495153	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23824713		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32669614	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28943951		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	14638866		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	15073846, 30285739, 35290621	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21347750	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17575124		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	20942981	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	22479346		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22479346	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	22479346		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	22479346	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	31008954		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24369382, 30290271, 30362252		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27495153, 30362252	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	26910372		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	26910372	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	25168293		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	27569545	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	24949445	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	14638866, 23446842, 23525648, 29310447		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	18061530, 28521426		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16152610, 27655721		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11526514, 15266310, 18620777, 23030478, 25708809, 28426730, 28708106, 29675105, 29724996, 29905011, 31230746		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18620777		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17890317, 25517572, 34948746	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21069451, 30013442	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	23525648		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28943951		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25432984		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10786676, 11719429, 11896615, 15580310, 15674328, 15692750, 16360296, 17200365, 17909041, 19080258, 19188760, 20401669, 21347750, 21983861, 23254778, 24330518, 24932569, 25678599, 30082886, 30154439, 30285739, 30335523, 30622118, 31075076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17200365		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24126431, 25892250, 26820701		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15073125		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24127039		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30242144		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12591741, 15674328, 16223882, 17019711, 17890317, 20367991, 20480411, 22693020, 23339925, 24473991, 26516139, 27834355, 31315632, 31481498		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16152610, 27655721		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11572989, 22317867, 25891642		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15073125, 26857392		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15814586, 16818616, 16956712, 17704139, 19035517, 20074932, 21965145, 26592150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15131042, 21466786, 22226915		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17575124		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16419058, 21520031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15674328, 22248280, 27352332		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10749140, 10786676, 11746990, 11896615, 15101042, 15168591, 15692750, 15814586, 16223882, 16225988, 16242840, 16360296, 16895604, 17163164, 17360458, 17458891, 17909041, 18437686, 18460020, 19287171, 19708029, 20074932, 20737170, 21165567, 21347750, 22226915, 22555346, 22736928, 23197378, 23525648, 23770367, 24330518, 24455756, 24510053, 24585490, 24932569, 24968878, 25245215, 25491415, 25538133, 25595185, 25595186, 25650666, 25681467, 25802472, 26302329, 26499798, 26592150, 26820701, 27190995, 27501229, 27869163, 28045433, 28283473, 28943951, 28977834, 29310447, 29662317, 29675105, 29845204, 30350478, 30370248, 30755385, 31315632, 31752354		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19700237, 30013442		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18273838, 21570414, 24938873		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29228715		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17200365		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11719429, 11896615, 24330518, 25681467, 30285739		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15998374, 17200365, 17909041, 19130459		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17200365		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17200365		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	22860045		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18365142		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	24503545	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	24369382, 30290271		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	16221525		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24520212, 30755385		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24932569, 30755385		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24456803, 30746283		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	24456803, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	28943951		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	16152610		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	16152610, 27655721	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	20060354		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10749140, 11013073, 15814586, 22869583, 24932569, 24968878, 28943951, 30350478		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17609426		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	17609426	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23525648		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	23534718	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24299313		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32101017	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10749140, 10786676, 11013073, 11572989, 11719429, 11896615, 11956080, 12591741, 14638866, 14695174, 15007382, 15044096, 15073125, 15073846, 15131042, 15145773, 15266310, 15870886, 16115915, 16152610, 16223882, 16360296, 16378185, 16818616, 17019711, 17142102, 17163164, 17360458, 17458891, 17609426, 17679088, 17909041, 18000379, 18061530, 18371080, 18437686, 18460020, 18620777, 18629536, 19080258, 19609013, 19700237, 19708029, 20060354, 20074932, 20146584, 20367991, 20480411, 20530675, 20535528, 20737170, 21115974, 21165567, 21276135, 21332605, 21347750, 21466786, 21520031, 21570414, 21685375, 21947875, 21983861, 22213016, 22226915, 22248280, 22317867, 22484428, 22534828, 22555346, 22693020, 22842668, 22860045, 22898080, 23030478, 23197378, 23254685, 23339925, 23370280, 23381945, 23446842, 23464470, 23525648, 23770367, 24044959, 24126431, 24127039, 24299313, 24330518, 24369382, 24455756, 24456803, 24473991, 24510053, 24520212, 24585490, 24932569, 24938873, 24968878, 25168293, 25245215, 25331887, 25416187, 25432984, 25491415, 25538133, 25595185, 25612104, 25650666, 25681467, 25802472, 25892250, 26120275, 26302329, 26499798, 26592150, 26857392, 26910372, 27339895, 27352332, 27655721, 27834355, 28045433, 28283473, 28386169, 28426730, 28521426, 28724435, 28769061, 28943951, 28977834, 29069730, 29152092, 29164763, 29310447, 29662317, 29675105, 29724996, 29808465, 29905011, 30082886, 30158849, 30214895, 30285739, 30307120, 30470736, 30619736, 30622118, 30755385, 30805310, 30853297, 31008954, 31056747, 31058319, 31075076, 31315632, 31340538, 31474505, 31481498		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	21947875, 22842668		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25403906, 30361190, 30746283, 31340538		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15126504, 24455756, 30158849		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25802472	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29808465		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12591741, 20480411, 24473991, 30307120		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	15998374		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	21552555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	21552555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	26238973, 30755385		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	29152092		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19896763, 20530675, 21165567, 23254685, 23566839, 23666471, 24330824, 27550453, 28045433, 28977834, 29085479, 29152092		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24330824, 25418192, 33455117	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29845204	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	22317867		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	15870886	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11013073, 11572989, 15870886, 25891642		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15982416	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21069451, 25891642, 27190995, 28749468, 32096174, 37779141	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15073125, 26857392		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	15073125		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18460020, 26857392	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18460020, 19352382, 19434452	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	19352382	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18371080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	18371080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	33958783, 35053314, 37328865, 40139278	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30350478		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23525648		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27339895		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30820047		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	CTD_human_DG	30820047		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	19035517	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16818616, 16956712, 17704139, 19035517, 20074932, 21965145, 26592150		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16818616, 17704139, 19035517		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17704139, 19035517	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19035517, 19484134, 21965145, 37324196	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	26120275		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25517572, 26902998	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22555346		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	24456803	Associate	★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	30094525		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	21332605		★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	18717684		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27495153, 30362252, 31618474, 35715422	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	21276135		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	21276135	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	24949445		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	37583270	Associate	★☆☆☆☆ Found in Text Mining only
Spherocytosis Type 1	Spherocytosis	Pubtator	34852950	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 12	Spinocerebellar ataxia	Pubtator	34268881	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	Spinocerebellar Ataxia	UNIPROT_DG	24369382, 24456803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	Spinocerebellar Ataxia	ORPHANET_DG	24369382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	Spinocerebellar Ataxia	CLINVAR_DG	24456803, 25411445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	24456803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	Spinocerebellar Ataxia	BEFREE	25716914, 30094525, 31669195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	11956080, 16115915, 16152610, 18061530, 28521426, 29164763		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16152610		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	17575124		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11956080, 16895604, 22213016		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	ORPHANET_DG	11956080, 22213016		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25526675		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16152610, 18061530, 25612104, 27501229, 29164763	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	16115915		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the esophagus	Esophageal Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23824713, 25612104, 27501229		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15131042, 20737170, 21466786, 22226915		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15131042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17575124		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22819381		★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	18047428	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16419058, 21520031		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16419058, 21520031		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18047428	Inhibit	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	22248280		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21069451	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30082886, 30154439, 30622118, 30987974, 31075076		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32300104, 39473747	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18452537	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33691672, 35563688	Associate	★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	CTD_human_DG	23618899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	23618899		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	18460020	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	19700237, 29310145, 30013442	Associate	★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	26345274, 28721938, 30290271, 30746283, 30853297, 31669195		★☆☆☆☆ Found in Text Mining only