PROM1 (prominin 1)

Gene

• Entrez ID: 8842
• Gene name: Prominin 1
• Gene symbol: PROM1
• Synonyms (NCBI Gene): AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4
• Chromosome: 4
• Chromosome location: 4p15.32
• Summary: This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutatio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853005	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs137853006	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137853907	G>T	Pathogenic	Stop gained, coding sequence variant
rs185335345	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201644238	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs372513650	C>G	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs373331232	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs373680665	C>A	Pathogenic	Splice acceptor variant
rs374017889	G>A	Pathogenic	Coding sequence variant, stop gained
rs375986111	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs530749007	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs543698823	->A	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs745495162	C>A,G,T	Likely-pathogenic	Splice donor variant
rs745704627	C>T	Pathogenic	Splice donor variant
rs746174328	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs747512450	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs752619497	C>T	Likely-pathogenic	Splice acceptor variant
rs762078182	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766246531	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766357803	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs775957498	A>G	Likely-pathogenic	Splice donor variant
rs780697796	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs796051882	T>C	Pathogenic	Intron variant
rs878853400	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886037612	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886037880	A>T	Pathogenic	Coding sequence variant, stop gained
rs886037881	ACAGGGAAAC>-	Pathogenic	Intron variant
rs1196489060	C>T	Likely-pathogenic	Intron variant
rs1210104601	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1300041533	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1355802816	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1460604134	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553901823	C>T	Likely-pathogenic	Splice donor variant
rs1560449207	C>A	Pathogenic	Stop gained, coding sequence variant
rs1578054973	GTTGCTA>CTCTAAGCCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1578097528	A>T	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021645	hsa-miR-142-3p	Reporter assay	21394831
MIRT021645	hsa-miR-142-3p	Luciferase reporter assay, Western blot	23619912
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT731955	hsa-miR-200b-5p	Luciferase reporter assay	28362995
MIRT731955	hsa-miR-200b-5p	Luciferase reporter assay	28362995
MIRT735967	hsa-miR-30a-5p	Immunohistochemistry (IHC), qRT-PCR	32791518
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT643397	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT643396	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT622607	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622606	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT622605	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT622604	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT622603	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT622602	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT622601	hsa-miR-183-3p	HITS-CLIP	23824327
MIRT622600	hsa-miR-4452	HITS-CLIP	23824327
MIRT1265068	hsa-miR-200b	CLIP-seq
MIRT1265069	hsa-miR-200c	CLIP-seq
MIRT1265070	hsa-miR-2909	CLIP-seq
MIRT1265071	hsa-miR-3162-5p	CLIP-seq
MIRT1265072	hsa-miR-337-3p	CLIP-seq
MIRT1265073	hsa-miR-369-3p	CLIP-seq
MIRT1265074	hsa-miR-374a	CLIP-seq
MIRT1265075	hsa-miR-374b	CLIP-seq
MIRT1265076	hsa-miR-429	CLIP-seq
MIRT1265077	hsa-miR-579	CLIP-seq
MIRT1265078	hsa-miR-888	CLIP-seq
MIRT2077918	hsa-miR-1305	CLIP-seq
MIRT2077919	hsa-miR-29a	CLIP-seq
MIRT2077920	hsa-miR-29b	CLIP-seq
MIRT2077921	hsa-miR-29c	CLIP-seq
MIRT2077922	hsa-miR-3065-3p	CLIP-seq
MIRT2077923	hsa-miR-421	CLIP-seq
MIRT2077924	hsa-miR-4709-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DNMT1	Unknown	20196115
HOXB4	Unknown	15735039
MYC	Unknown	22945648
SP1	Unknown	22945648
SRY	Unknown	21947321

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0005515	Function	Protein binding	IPI	18654668, 23084749, 24556617
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005783	Component	Endoplasmic reticulum	IDA	24556617
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	24556617
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005886	Component	Plasma membrane	IDA	12042327, 24556617
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9389720
GO:0005902	Component	Microvillus	IBA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	16809613, 19384922
GO:0010842	Process	Retina layer formation	ISS
GO:0015485	Function	Cholesterol binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031528	Component	Microvillus membrane	IEA
GO:0031982	Component	Vesicle	HDA	19190083
GO:0042622	Component	Photoreceptor outer segment membrane	IDA	18654668
GO:0042805	Function	Actinin binding	IDA	18654668
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	IPI	18654668
GO:0045494	Process	Photoreceptor cell maintenance	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	18654668
GO:0060042	Process	Retina morphogenesis in camera-type eye	IMP	18654668
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IBA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IMP	18654668
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0071914	Component	Prominosome	IBA
GO:0072112	Process	Podocyte differentiation	IMP	19092120
GO:0072139	Process	Glomerular parietal epithelial cell differentiation	IMP	19092120
GO:2000768	Process	Positive regulation of nephron tubule epithelial cell differentiation	IMP	16885410

Other IDs

• MIM: 604365
• HGNC: 9454
• e!Ensembl: ENSG00000007062

Protein

• UniProt ID: O43490
• Protein name: Prominin-1 (Antigen AC133) (Prominin-like protein 1) (CD antigen CD133)
• Protein function: May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05478	Prominin	18 → 820	Prominin	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also ex
• Sequence:

  MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVH
  IFLYVVQPRDFPEDTLRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFI
  ILMPLVGYFFCMCRCCNKCGGEMHQRQKENGPFLRKCFAISLLVICIIISIGIFYGFVAN
  HQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDKAFTDLNSINSVLGGG
  ILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRS
  SLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQG
  YQSLNDIPDRVQRQTTTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYI
  HRNLPTLEEYDSYWWLGGLVICSLLTLIVIFYYLGLLCGVCGYDRHATPTTRGCVSNTGG
  VFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELFRVLDTPYLLNEDWEY
  YLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELES
  LKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANS
  LPPGNLRNSLKRDAQTIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASL
  DFAQNFITNNTSSVIIEETKKYGRTIIGYFEHYLQWIEFSISEKVASCKPVATALDTAVD
  VFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSEDVYDDVETIPMKNME
  NGNNGYHKDHVYGIHNPVMTSPSQH

• Sequence length: 865

Pathways

KEGG:

Transcriptional misregulation in cancer

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
Autosomal recessive retinitis pigmentosa	Likely pathogenic; Pathogenic	rs543698823, rs768303070, rs137853907	RCV001257789 RCV001257790 RCV001257888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic; Likely pathogenic	rs886037880, rs886037881, rs1296826479, rs1553901823, rs775957498, rs373680665, rs1355802816, rs1719285721, rs368213921	RCV002267733 RCV002267734 RCV003324707 RCV001199726 RCV001199727 RCV003324540 RCV003324542 RCV001199725 RCV003324549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 12	Likely pathogenic; Pathogenic	rs1333833629, rs1733212554, rs1324631413, rs137853907, rs2475275702, rs137853006, rs878853400, rs886037880, rs886037881, rs2475104632, rs373680665, rs543698823, rs766246531, rs373331232, rs1210104601, rs775957498, rs530749007, rs766357803, rs747512450, rs374017889, rs752619497, rs368213921	RCV001352997 RCV001353023 RCV005253830 RCV002288584 RCV002289076 RCV000005962 RCV001542528 RCV000240342 RCV000239774 RCV003226085 RCV004586423 RCV000761312 RCV005355783 RCV003236584 RCV000678603 RCV000761332 RCV004796310 RCV003225955 RCV005235496 RCV001198630 RCV001352977 RCV003883533	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod dystrophy 2	Likely pathogenic; Pathogenic	rs543698823, rs1726238223	RCV001255712 RCV001255713	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated macular dystrophy	Pathogenic	rs1304065271	RCV001199728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs373680665, rs745704627	RCV003324541 RCV003324543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 1	Pathogenic; Likely pathogenic	rs1300041533, rs747512450	RCV000855429 RCV000855430	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Likely pathogenic; Pathogenic	rs137853006	RCV000787649	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROM1-related disorder	Pathogenic; Likely pathogenic	rs2149068027, rs137853907, rs543698823, rs1460604134, rs1300041533, rs373680665, rs1577845276	RCV004699365 RCV004734647 RCV000779436 RCV004530703 RCV005870936 RCV004536013 RCV005866798	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs137853006, rs543698823	RCV006253451 RCV006436773	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs137853907, rs1722855407, rs1459317703, rs1328001825, rs746174328, rs137853005, rs137853006, rs878853400, rs762078182, rs372513650, rs1721714409, rs2475231042, rs200907523, rs543698823, rs766246531, rs373331232, rs780697796, rs1553901823, rs1460604134, rs775957498, rs530749007, rs766357803, rs1578097528, rs1302809734, rs745704627, rs752619497, rs368213921, rs777673930, rs1718726537, rs761152494, rs1743846367, rs1577845276, rs1722845773, rs1472802723, rs1295259849, rs778618612	RCV000504778 RCV004816833 RCV004816793 RCV002466816 RCV000504956 RCV000210292 RCV000504765 RCV000225433 RCV000225407 RCV000225654 RCV004818411 RCV003890886 RCV003890895 RCV000505153 RCV001073994 RCV000504621 RCV000504986 RCV003889918 RCV001074705 RCV004817970 RCV003889979 RCV004818009 RCV001075335 RCV001075504 RCV001075553 RCV001075075 RCV001075595 RCV001073433 RCV001075023 RCV001075408 RCV001075098 RCV001075126 RCV001075128 RCV001075727 RCV001073944 RCV004813760 RCV004813864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal macular dystrophy type 2	Pathogenic; Likely pathogenic	rs2149078995, rs137853006, rs1721714409, rs373680665, rs766246531, rs752619497, rs1718768311, rs1326022839	RCV003989690 RCV000005961 RCV004691622 RCV004586423 RCV005355783 RCV002497313 RCV003483805 RCV003483804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs137853005, rs137853006, rs543698823, rs201644238, rs766357803, rs1578097528, rs1302809734, rs1717541693	RCV000504792 RCV001723543 RCV001003127 RCV000504677 RCV000787650 RCV000787651 RCV000787917 RCV001199724	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 41	Pathogenic; Likely pathogenic	rs1324631413, rs2149113303, rs2149080351, rs2149407830, rs746174328, rs886037612, rs137853005, rs137853006, rs1560532624, rs543698823, rs766246531, rs780697796, rs775957498, rs530749007, rs747512450, rs373680665, rs1355802816, rs745704627, rs374017889, rs752619497, rs1482618215, rs1718768311, rs1326022839	RCV005253830 RCV001591824 RCV001808087 RCV001808139 RCV000190617 RCV000005958 RCV000005959 RCV002496275 RCV003991387 RCV000987422 RCV000454283 RCV000987427 RCV001592948 RCV000784975 RCV002051900 RCV000987420 RCV000987423 RCV000987424 RCV000987425 RCV002497313 RCV001587222 RCV003483805 RCV003483804	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Pathogenic; Likely pathogenic	rs1324631413, rs2149234796, rs137853006, rs543698823, rs373680665, rs745704627	RCV002466268 RCV002466272 RCV000787648 RCV002467446 RCV002467454 RCV002466264	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Likely pathogenic; Pathogenic	rs137853006, rs886037880, rs373680665, rs766246531, rs752619497, rs1730403199	RCV000005960 RCV002247690 RCV004586423 RCV005355783 RCV002497313 RCV001199380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Usher syndrome	Pathogenic	rs1560449207	RCV000678600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMAUROSIS CONGENITA OF LEBER, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy, retinal	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, RETINAL, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stargardt Disease, Dominant	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Kidney Tubular Necrosis	Renal tubular necrosis	BEFREE	27871857		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	18702870, 23532815		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11314021, 23532815, 27461622, 29113211		★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with multilineage dysplasia	Myeloid Leukemia With Multilineage Dysplasia	BEFREE	15345284		★☆☆☆☆ Found in Text Mining only
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	24356780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18754869, 20179163, 20303649, 20844808, 20872808, 20937222, 22142828, 24484648, 25625240, 27435662, 27920206, 28216140, 29790189, 30900377		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18754869		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31059103		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	27069317		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20193109, 25015560, 30061254		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20937222, 21159654, 21479367, 22349807, 22529186, 22825470, 25605013, 26573874, 26951513, 28476825		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	28216417		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21912092, 28484082, 30061254		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	28190751, 28484082		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25916394		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23532815, 29113211		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26506419		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30549248		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19308264, 20564348, 21486962, 21725800, 21931624, 25921740, 27775079, 31362265		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	18654668, 20393116, 20859302, 26110599, 28095140, 28437526, 28840994		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	18654668		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	27084744, 28500913		★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	28766250		★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23341441		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	23341441	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19965636		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30706812		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	19875502	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24625091, 24726912, 26068418, 27458977, 27789528, 28960866, 30867841, 31586042		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	32414170	Stimulate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	27084744, 28500913		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24900981, 28137267, 30248046, 31677196	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26701969, 30248046, 31677196		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	31127889	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	22855739	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	20042663	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	18509505, 19362240, 24816458		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	31054360		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29423015		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	21225866		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	24714516, 27069317, 28216140		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	24714516, 27069317	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	21451132, 27789528		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21801380, 28083789, 31366502		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	28180936, 28688656, 30723921, 31549181		★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	31879968	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	24964207		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26945449		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15153610		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	34008001	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15549107, 17051156, 17140455, 17878898, 17955491, 18676824, 18985161, 19326372, 19362240, 21088899, 21110069, 21274750, 22431923, 25921740, 26086074, 26152745, 26757925, 28055976, 28137267, 30717708, 31115870		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18096722, 18985161		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18292095, 18985161, 19018263, 20480407, 21411810, 22265735, 22435486, 26086074, 26163602, 26757925, 28137267, 30717708	Associate	★☆☆☆☆ Found in Text Mining only
Brain Stem Glioma	Brain Stem Glioma	BEFREE	27721007		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12878859, 23661576, 24008095, 24330829, 28166194, 28243121, 28602756, 30918839, 31516750, 31636668		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	32390595	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21220328, 21914172, 22791584, 23049880, 24330829, 24962344, 28216417, 28399903, 28870198, 29747452, 30091683, 31436297, 31450925, 31947762, 32085795, 32316333, 32390595, 33112567, 36120770, 36193308	Associate	★☆☆☆☆ Found in Text Mining only
Bull`s eye macular dystrophy	Bull`s Eye Macular Dystrophy	UNIPROT_DG	18654668		★☆☆☆☆ Found in Text Mining only
Bull`s eye macular dystrophy	Bull`s Eye Macular Dystrophy	ORPHANET_DG	20393116		★☆☆☆☆ Found in Text Mining only
Bull`s eye macular dystrophy	Bull`s Eye Macular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Bull`s eye macular dystrophy	Bull`s Eye Macular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Bull`s eye macular dystrophy	Bull`s Eye Macular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	23604326		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19528487, 20593500, 21412503, 21829201, 22945648, 26029999, 28190751, 30105829, 35798319, 37997289, 38117655	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	31804333	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18261235	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19528487, 20530428, 22276605, 23652853, 24271022, 26206347, 28083789, 29909565, 31623313		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24804195, 28216417, 34791507	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25889325	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26625750, 32390595, 33112567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17594720	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	28794448, 28990139	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19686584, 19744348, 19842219, 20196115, 20511115, 20596644, 21491582, 21737452, 21909686, 23593389, 24616575, 25311946, 25425463, 25772244, 25973027, 26029999, 26095609, 26160842, 26176896, 26327240, 26462839, 26506419, 26878908, 27050147, 28258914, 28281970, 28414325, 28566884, 28687090, 29534065, 29749472, 29843222, 30182377, 30297396, 30600675, 31056532, 31366337, 31462277, 31727942, 32418739, 32564007, 33524223, 35208536, 35931200, 39712016	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35713728	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30497437	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	32390595	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27078887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	28262804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26945449, 31213893		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	21542968, 24146103, 24573690, 25241082, 26081615, 26353857		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18612434, 21947321, 22906416, 23276935, 23426441, 23683495, 23715500, 24008862, 24440048, 24484648, 24787949, 25256670, 25955300, 26122848, 26514616, 26554827, 26936292, 27130457, 27432082, 28122729, 28854941, 29082764, 29387193, 29758924, 29843871, 30015975, 30138935, 30421542, 30430389, 30542415, 30628703, 31367260		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25399490, 31899997	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	12824920, 18261235, 21411814, 21922151, 23071857, 24839953, 26530530, 26597727, 27414409, 28659655, 38471128	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21281815, 22614155, 26992212, 27812180, 31545459, 33878963, 40650074	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24102054	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17868344, 18836486, 22643117, 24362529, 24862760, 27738346, 27878291, 28043921, 28525846, 28836469, 29168665, 29725407, 29730663		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	30217223	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17719840	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	17719840		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	29970672		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	25184684		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20854168		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	30321232	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29609538		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	21804471, 29609538		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19147788, 23532815, 29113211		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	26506419		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19308264, 20564348, 21486962, 21725800, 21931624, 25921740, 26188016, 27775079, 31362265		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19842219, 23917144, 24382987, 28057014, 31661725		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	19842219, 21448425, 21798073, 25755719, 29510695, 35312724, 38117655	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28688656		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	40725401	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21225866		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31549181		★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	28607604, 31750243		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17594720, 17932721, 18235245, 19621338, 19724847, 19734943, 20023382, 20167130, 20332776, 20379837, 20530554, 20587144, 20711432, 20966547, 21308861, 21601882, 21656271, 21826669, 21966538, 22071867, 22231565, 22552364, 22753241, 22871210, 22954703, 22964035, 23027178, 23245395, 23577199, 23619912, 24762489, 25625240, 26002465, 26350748, 26840024, 26996296, 27387378, 27600678, 27659530, 28358339, 28578295, 29328371, 29432737, 29464039, 29928431, 30521383, 30941956, 30947381, 31215867, 31390540, 31393941, 31736063		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17122772, 17594720, 18497883		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	19437567, 19528487, 19583834, 22870594, 23358684, 23709346, 25015560, 28347289, 28358339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	21188121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	BEFREE	23577199, 26091938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	27930579, 35485315	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18754869, 19321126, 19528487, 19699546, 20005089, 20502714, 20530428, 20593500, 20616575, 20728343, 20872808, 20966547, 21267784, 21436631, 21601882, 21656271, 21764578, 22071867, 22267181, 22496204, 22552364, 22871210, 22964035, 23055022, 23065858, 23409180, 23537343, 23571142, 23826249, 24630518, 24921913, 25331798, 25625240, 26049545, 26092596, 26206347, 26406410, 26637875, 26840024, 26840260, 27059026, 27435662, 27449042, 28190751, 28261953, 28484082, 29100290, 29519158, 29627822, 29789423, 29879012, 30218452, 30221090, 30275459, 30317669, 30799951, 30880758, 30899442, 30950180, 31181683, 31276199, 31280219, 31393377, 31440083, 31579983, 31619711		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18829568		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17594720, 18754869, 18781171, 19030762, 19528487, 20081809, 20219069, 20307308, 20353562, 20433742, 20502714, 20593500, 20606680, 20630067, 20800023, 21412503, 21966538, 22231565, 22246526, 22267181, 22736392, 22856425, 22870594, 22895640, 22964035, 23055022, 23195431, 23322982, 23709346, 23874993, 24278407, 24760019, 24762489, 24864242, 25015560, 25571056, 25735334, 25902072, 26350748, 27528226, 27659530, 28190751, 28347289, 28794448, 29105339, 29328371, 29886802, 30272331, 30338942, 30880758, 30950180, 31393377, 31393941, 31552833, 31619711, 32037723, 32203206, 32253906, 32453965, 32759397, 33097678, 33173015, 33300106, 33592546, 33759958, 34092615, 34288405, 34669880, 34997691, 35670012, 35785618, 37083591, 37098074, 39300378	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18781171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18829568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	22871210, 27449042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27764803, 28261953, 28990068	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27983919, 28619275, 33720534	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	25625843	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	20042663	Associate	★☆☆☆☆ Found in Text Mining only
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	19718270, 20859302, 21496248, 24547909, 24763286, 26153215, 26702251, 31136651		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY 12 (disorder)	Cone-rod dystrophy	CLINVAR_DG	10205271, 19718270		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 12 (disorder)	Cone-rod dystrophy	UNIPROT_DG	18654668		★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 12 (disorder)	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
CONE-ROD DYSTROPHY 12 (disorder)	Cone-rod dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19718270, 20859302, 21496248, 24547909, 24763286, 26153215, 26702251, 31136651		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	19718270		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	CLINVAR_DG	26153215		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	28180936, 28688656, 30723921, 31549181		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	11314021		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28057014, 31661725		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28451446		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21127401, 22614155, 24054866, 28056882, 29050853, 31423209, 31545459		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21235297, 26458356, 30211929		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	18192701, 21235297, 26458356		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	18929243, 21235297, 22855739	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	18578002	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21235297, 26458356		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27339637		★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	21228926	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28398518		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	22922842		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40170649	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30321232, 30549248, 31042624		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35547007	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19019194, 31869243	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30321232, 30549248, 31042624		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30321232	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31869243	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29455365, 30347712		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27815289, 28743634		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31869243	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29076766		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	25770162		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	18654671, 20393116, 26110599, 30588538		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	27119349		★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	20393116	Associate	★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	28794448		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	21602936		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19509143, 21122138, 24366104, 26868332, 27791463, 28618953, 28794448, 28819416, 29096246, 30594556		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	BEFREE	21122138		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23962788, 26868332, 27626172, 28618953, 28794448, 31122521, 31864232, 35186145, 36720532, 39888143	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23545719		★☆☆☆☆ Found in Text Mining only
Ependymoblastoma	Ependymoblastoma	BEFREE	23865520		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	20511191, 22120695		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	29760280	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29168665		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	19699546, 24102054		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29604392, 30217457		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25374189	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29604392, 30217457		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23448401, 25374189, 30741466, 36042592	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27314299		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	23708735, 31403697		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31549181		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	16302851	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31619711	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	21757643	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	20948317, 21788103, 24078448, 30405779		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26318430, 26910892	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	21054902, 30061208		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27079437		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	21064103, 21462307, 22076958, 23408993, 28398518		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	22076958, 23408993	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	18679414, 18829568, 19718438		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17051156, 17140455, 17483311, 18523971, 18568776, 18679414, 18765229, 18829568, 19243384, 19326372, 19372578, 19468690, 19671863, 19832037, 19904829, 20308310, 20375132, 20385361, 20388502, 20428792, 20460538, 20467331, 20665731, 20735813, 20800650, 21220328, 21294158, 21300033, 21380601, 21479688, 21727210, 21857646, 21863242, 21901757, 21916848, 21989663, 22020337, 22098779, 22134773, 22166264, 22174890, 22265735, 22431923, 22711523, 22748652, 22805276, 22999819, 23147506, 23245659, 23307586, 23429286, 23737374, 23836332, 24129546, 24375541, 24399651, 24531536, 24704830, 24805821, 25184684, 25359730, 25541984, 25749043, 25823028, 26150336, 26152745, 26274999, 26498281, 26573230, 26757925, 27102002, 27338789, 27343059, 27484906, 27530866, 27651158, 28059653, 28137267, 28166194, 28241049, 28535010, 28602756, 28607604, 28677106, 28736425, 28770964, 28938545, 28948499, 29162480, 29180077, 29245920, 29284440, 29348854, 29392691, 29392693, 29492900, 29890731, 30041669, 30267383, 30367810, 30555755, 30759398, 31035344, 31040154, 31115870, 31275378, 31541799, 31561595, 31573817, 31695152, 31750243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	17140455, 18230189, 19288188, 19372578, 19671863, 20145155, 20308310, 20385361, 20668194, 20735813, 20806346, 21220328, 21411810, 22203689, 22805276, 22999819, 23052455, 23245659, 23319191, 23340741, 23652300, 23658323, 23734191, 24399651, 24531536, 24805821, 25128061, 25359730, 25749043, 26020805, 26637806, 26757925, 26983719, 27102002, 27484906, 27651158, 28030635, 28677106, 29492900, 30046941, 30353492, 30367810, 30467961, 32164385, 32492707, 32526957, 36333778, 37997289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	LHGDN	18096722, 18568776, 18679414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	18679414, 18829568, 19718438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	34066147	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	17051156, 17140455, 18523971, 18568776, 18679414, 18765229, 18829568, 19326372, 19372578, 19468690, 19605626, 19671863, 19832037, 19904829, 20308310, 20309962, 20375132, 20385361, 20388502, 20428792, 20460538, 20467331, 20735813, 20800650, 21082235, 21220328, 21300033, 21380601, 21479688, 21490182, 21727210, 21857646, 21863242, 21901757, 21916848, 21989663, 22134773, 22166264, 22265735, 22431923, 22711523, 22748652, 22805276, 22999819, 23245659, 23307586, 23397238, 23429286, 23737374, 23861869, 24129546, 24305720, 24375541, 24399651, 24531536, 24604164, 24704830, 24805821, 25128061, 25184684, 25359730, 25541984, 25749043, 25823028, 26150336, 26152745, 26274999, 26498281, 26573230, 26757925, 27102002, 27338789, 27343059, 27484906, 27530866, 27651158, 28059653, 28166194, 28241049, 28535010, 28602756, 28607604, 28736425, 28770964, 28938545, 28948499, 29162480, 29180077, 29245920, 29284440, 29348854, 29348889, 29392691, 29392693, 29492900, 29890731, 30041669, 30267383, 30367810, 30555755, 30759398, 30864699, 31035344, 31040154, 31115870, 31275378, 31541799, 31573817, 31695152, 31750243		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	18679414, 18829568, 19718438		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17140455, 18398462, 18985161, 19108713, 19823589, 20150367, 20526804, 20735813, 20887676, 20957337, 21712410, 22435486, 22945648, 23340741, 23652300, 23734191, 24531536, 24719188, 24811314, 24958096, 25192910, 25283629, 26086074, 26261540, 26755664, 26757925, 27780926, 28055976, 28362995, 28410224, 33878963, 34170383, 35312943, 35798319, 37772382	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17878898, 17955491, 18676824, 18985161, 19108713, 19166820, 19272160, 19326372, 19340456, 19350631, 19430894, 19671863, 19724856, 20064927, 20417617, 20460538, 20735813, 20853315, 20957337, 20971076, 21110069, 21300033, 21618540, 21769436, 21878493, 22249269, 22393126, 22641287, 22945648, 23106300, 23356982, 23524267, 23569237, 23760448, 24434210, 24531536, 24704830, 24833465, 25192910, 25427614, 25605251, 25651893, 25823028, 25967234, 26086074, 26572167, 26701969, 26755664, 26757925, 27277755, 27343059, 27374817, 27608896, 27739438, 27780926, 27878295, 28055976, 28362995, 28410215, 28599471, 28849427, 28875331, 28881826, 28947963, 29348889, 30269613, 30891998, 31040154, 31147892, 31382985		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	18172261, 18398462		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	19937755		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	31869243	Inhibit	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIB	Glycogen storage disease	Pubtator	19583834	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	32767964	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	15911096	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	26858125		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23396254	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19380281	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	28451446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemangioblastoma	Hemangioblastoma	BEFREE	16163267, 17218907		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	14576053, 16456130, 21689017, 22717583, 23047069, 28960167, 30965238		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	39337249	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23768928		★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	25120757	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	40649881	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19744348	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	25425463	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	28258914, 29534065	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	25168019, 29530069, 30412911		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30549248		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	28396625		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29076766		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21757643, 27367286	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18985161, 20671264, 22614155, 23340741, 29708435, 30497437	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27367674, 29492900	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	30999901		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33925174	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18535669, 19351838, 19383826, 21112564, 22717583, 25189742, 26049545, 27655682		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29772232		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	28960167		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	29531279		★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	20881566	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	27528226	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	20379837, 29510695, 30405779		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31869243	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29267971, 29929186, 30792422		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	20844808		★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	BEFREE	26081615		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27816053, 29949786	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	28261352, 29949786		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	31836589, 37975849	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	15153610, 17140455, 17464090, 19147788, 19832037, 21040219, 27461622, 30412911		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	17140455, 32242051, 33924032, 37536029	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18702870		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15345284, 15659725, 16000576, 18061946, 32219447, 36508705, 37536029	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11314021, 11435312, 14513049, 15345284, 15659725, 16457884, 18702870, 23308055, 23532815, 31217856, 31228554		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	22782852		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	22782852		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	34321458	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17097610, 18393293, 18925631, 19744348, 19842219, 20196115, 20395004, 20969862, 21112564, 21324921, 21331808, 21737452, 21909686, 21959795, 21994122, 22079466, 22580004, 22773665, 22999864, 23233126, 23438193, 23685049, 23970349, 24130050, 24678763, 24721996, 24785097, 25015418, 25267273, 25301737, 25335734, 25425463, 25561791, 25672610, 25772244, 25921286, 26029999, 26061710, 26095609, 26099525, 26139123, 26160842, 26176896, 26327240, 26370320, 26462839, 26506419, 26758620, 26942873, 27006468, 27208741, 27925189, 28034805, 28253902, 28281970, 28358339, 28455240, 28566884, 28687090, 28849237, 29045824, 29119708, 29344233, 29435028, 29534065, 29626309, 29749472, 29906748, 30064482, 30069818, 30297396, 30302811, 30365183, 30382122, 30483804, 30959553, 31042624, 31066542, 31069171, 31197130, 31226288, 31661725, 31727942, 31757938		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17205516		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25425463, 29127060, 30805710, 31549181		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25425463, 29534065	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	17097610, 19171902, 21112564, 21909686, 21994122, 22145042, 24721996, 25772244, 26029999, 28455240, 31066542, 31069171		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	18644979		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	26878908	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24671051, 33123122	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18612434, 18728788, 20080668, 23683495, 23959111, 24440048, 24484648, 25256670, 26572130, 26782458, 29758924, 38536434	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23239514	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	26141860		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17764548	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17764548		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18349830, 20062010, 21054902, 21276138, 22529186, 23170850, 24758564, 25735334, 25889325, 26028069, 26261540, 26625750, 33112567, 33207860	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	21054902, 29879012		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23396254	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	18654668		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	20393116, 20859302, 34008001, 35947379, 37975849, 39596324	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	36899935	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	20393116, 20859302, 26110599, 28095140, 28437526, 28840994		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Macular dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	20393116, 36930890	Associate	★☆☆☆☆ Found in Text Mining only
Macular Dystrophy Retinal 2	Macular dystrophy	Pubtator	31836589	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18180758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	24964207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	18676824, 21912092, 26755664, 26757925, 28736425, 30393962, 31275378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	17051156, 18985161, 21479688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23661576, 24008095, 24330829, 28166194, 28243121, 28602756, 30918839, 31516750, 31636668		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21122138, 24366104, 26868332, 27791463, 28618953, 28794448, 28819416, 29096246, 30594556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29604392, 30217457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24078448, 30405779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15558321, 21127401		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	24573690, 25241082, 26081615, 26353857		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20196115, 20800650, 22025269, 22079466, 22773665, 22999864, 23233126, 23438193, 23970349, 24431896, 24556826, 24898317, 25301737, 25311946, 26370320, 26506419, 26758620, 26883105, 27959451, 28253902, 28281970, 28367990, 29749472, 29843222, 30217560, 30365183, 31197130, 31646784, 31727942		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18612434, 21124918, 21947321, 22906416, 23276935, 23426441, 23683495, 23715500, 24008862, 24440048, 24484648, 24787949, 25256670, 25955300, 26122848, 26514616, 26554827, 26936292, 27130457, 27432082, 28122729, 28854941, 29082764, 29387193, 29758924, 29843871, 30015975, 30138935, 30421542, 30430389, 30542415, 30628703, 31367260, 31691184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	22782852		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	23604326		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17868344, 18836486, 22643117, 23055022, 24362529, 24862760, 27738346, 27878291, 28043921, 28525846, 28836469, 29725407, 29730663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20303649, 22322379, 23036582, 23672538, 24719318, 24734907, 25551472, 25829252, 25997702, 27367674, 27505247, 27654574, 28660570, 28970361, 29344263, 29947365, 30805710, 30991694, 31595775		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17192875, 18492237, 18539965, 20179163, 20717901, 21138868, 21801380, 23609451, 24088787, 25216351, 25661993, 25833838, 28083789, 28600675, 29775627, 29790189, 30275193, 31423179, 31732520, 31819373		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23055022, 24302553, 25230779, 25862862, 27034262, 27489358, 27557490, 28326835, 29084052, 29344155, 30061208, 30717708, 30805710, 31438772, 31611965		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	19221743		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	23081821, 24654752, 28817605, 30160089, 30690057, 30771902		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21220328, 26945449		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16914572, 17097610, 17140455, 17307142, 17332509, 17483311, 17592251, 17878898, 17932721, 18235245, 18509505, 18612434, 18676824, 18754869, 18925631, 18925963, 19143028, 19326372, 19362240, 19509143, 19530986, 19605626, 19621338, 19699546, 19724856, 19748175, 19752721, 20023382, 20068153, 20145155, 20190567, 20193106, 20196115, 20332776, 20333645, 20361077, 20379837, 20395004, 20428792, 20467331, 20564348, 20587144, 20616575, 20668194, 20711432, 20717901, 20878131, 20879984, 20937222, 20948317, 20957337, 20969862, 21082235, 21092249, 21110069, 21122138, 21174061, 21220328, 21293509, 21331808, 21397355, 21480217, 21486962, 21542968, 21601882, 21778785, 21801380, 21901619, 21909686, 21916848, 21947321, 21959795, 22076649, 22076958, 22079466, 22098779, 22134773, 22156015, 22276605, 22337994, 22496204, 22748652, 22770475, 22782852, 22825470, 22865455, 22906416, 22930170, 22964035, 23027394, 23055022, 23066953, 23084749, 23106300, 23233126, 23307586, 23328665, 23338123, 23359111, 23382894, 23408993, 23409180, 23416969, 23426441, 23429286, 23437259, 23471193, 23508981, 23569237, 23577199, 23602898, 23619912, 23661576, 23708735, 23709346, 23715500, 23881612, 23970349, 24073856, 24088787, 24102054, 24130050, 24146103, 24271022, 24302553, 24330829, 24356998, 24362529, 24366104, 24375541, 24399651, 24630518, 24659666, 24793792, 24816458, 24921913, 24927163, 25015418, 25135431, 25168019, 25184684, 25241082, 25286754, 25301737, 25327563, 25374189, 25605013, 25625240, 25735977, 25770162, 25829252, 25921286, 25967234, 26002465, 26020117, 26029999, 26058661, 26068418, 26086074, 26095609, 26141860, 26160842, 26191146, 26206347, 26285774, 26312765, 26327240, 26462839, 26637806, 26646272, 26676719, 26676867, 26758620, 26840260, 26858125, 26936116, 26945449, 26956263, 26983719, 27006468, 27059026, 27069317, 27102864, 27314299, 27338789, 27367674, 27374091, 27387378, 27435662, 27489358, 27530866, 27566179, 27608896, 27613604, 27619680, 27654574, 27655682, 27780926, 27789528, 27856246, 27903969, 27920206, 27991692, 28000861, 28034805, 28056882, 28110190, 28125999, 28166194, 28216417, 28253902, 28261352, 28281970, 28326835, 28393186, 28415725, 28430648, 28437526, 28452069, 28455240, 28476825, 28535666, 28578295, 28618017, 28624968, 28660570, 28687090, 28693150, 28736425, 28749462, 28787001, 28849237, 28862656, 28902370, 29050853, 29100290, 29196128, 29271118, 29284440, 29432994, 29510695, 29582375, 29604392, 29618746, 29658163, 29682821, 29683262, 29719610, 29721049, 29721059, 29760280, 29761897, 29775627, 29789423, 29790189, 29808880, 29888111, 29898423, 29900044, 29909565, 29911902, 29949786, 30002278, 30007204, 30061254, 30064482, 30138944, 30217560, 30221090, 30267383, 30296284, 30307770, 30321514, 30328220, 30379148, 30382122, 30399449, 30412911, 30417194, 30430389, 30504405, 30554343, 30659021, 30717708, 30799951, 30866863, 30873590, 30891998, 30920798, 30945284, 30955861, 30991694, 31042624, 31102292, 31164716, 31228554, 31250425, 31275378, 31276199, 31335117, 31351129, 31360301, 31362265, 31368411, 31371076, 31379943, 31393941, 31465736, 31466290, 31517730, 31603127, 31623109, 31623313, 31634481, 31636668, 31638335, 31646784, 31648389, 31727942, 31736063, 31750243, 31757938		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29609538		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17594720, 17932721, 18235245, 19621338, 19724847, 19734943, 20023382, 20332776, 20333645, 20379837, 20530554, 20587144, 20711432, 20966547, 21308861, 21601882, 21656271, 21826669, 21966538, 22071867, 22231565, 22552364, 22753241, 22871210, 22954703, 22964035, 23027178, 23245395, 23577199, 23619912, 24762489, 25625240, 26002465, 26350748, 26840024, 27387378, 27600678, 27659530, 28578295, 29328371, 29432737, 29464039, 29928431, 30521383, 30941956, 30947381, 31215867, 31390540, 31393941, 31736063		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	21188121		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	31636668		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	32961817	Associate	★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	23065858		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	19897677, 24073856		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18773455, 20480407, 21486962, 23135025, 26261540, 27537345, 39963032	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19308264, 20564348, 21486962, 21725800, 21931624, 25921740, 27566179, 27775079, 31362265		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15899824, 19221743, 20005089, 22529031, 22865455, 22922842, 23318676, 24799129, 25769726, 26285774, 26554827, 27102864, 27476721, 27613604, 28125999, 30317035, 31623313, 31691184		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	17143262, 18802032, 19221743, 20062010, 20882037, 22072879, 23318676, 23525090, 25339000, 28125999, 28216417, 35216449, 35282769, 37796710, 38243233, 39459448	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22754374, 29131275, 29368320, 32705667	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	29131275		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	23318676, 27613604		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	17194713	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	18985161	Stimulate	★☆☆☆☆ Found in Text Mining only
Mixed Tumor, Mullerian	Mixed Tumor, Mullerian	CTD_human_DG	21919130		★☆☆☆☆ Found in Text Mining only
Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy	BEFREE	24028392		★☆☆☆☆ Found in Text Mining only
Miyoshi myopathy	Miyoshi Myopathy	BEFREE	24028392		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35296132	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39849873	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	15618473	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	7524734		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	18493616, 21574524	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	17912948		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	18371406, 19153665, 26415573		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11435312, 14513049, 14531911		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20662087, 30334347	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	27435001		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15153610		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	19019194, 28781130	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20404026, 29633605, 30705637		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	20167338	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	30211929		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	19718270	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20007324, 23604326, 29762837, 30138944		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12878859, 15549107, 15558321, 17051156, 17097610, 17140455, 17307142, 17388661, 17878898, 17955491, 18037961, 18376144, 18403755, 18539965, 18676824, 18754869, 18829568, 18836486, 18925963, 19108713, 19166820, 19176379, 19216024, 19243384, 19272160, 19321126, 19362240, 19383826, 19468690, 19509143, 19530986, 19605626, 19617900, 19621338, 19699546, 19724856, 20005089, 20167130, 20179163, 20308310, 20309962, 20332776, 20379837, 20385361, 20460538, 20467331, 20484027, 20511191, 20530428, 20587144, 20587664, 20616575, 20711432, 20735813, 20844808, 20872808, 20937222, 20951698, 20957337, 20966547, 20970309, 20979695, 21054902, 21064103, 21102433, 21109969, 21112564, 21122138, 21124918, 21304978, 21331808, 21380601, 21480217, 21601882, 21618540, 21656271, 21725800, 21764578, 21778785, 21801380, 21896084, 21900397, 21912092, 21919130, 21947321, 21994122, 22079466, 22134773, 22156015, 22223359, 22231565, 22267181, 22431923, 22496204, 22514116, 22529186, 22534715, 22552364, 22614155, 22688186, 22748652, 22865455, 22922842, 22948942, 22964035, 23045288, 23065858, 23084749, 23106300, 23150174, 23233126, 23287475, 23307586, 23408993, 23537343, 23577199, 23604326, 23661576, 23826249, 23832679, 23836332, 23865520, 23917144, 24008862, 24028900, 24045973, 24073856, 24102054, 24146103, 24188385, 24330829, 24356780, 24375541, 24549646, 24572994, 24630518, 24816458, 24966152, 25168019, 25184684, 25335734, 25525036, 25541984, 25576341, 25601564, 25691807, 25770162, 25772366, 25808439, 25823028, 25829252, 25879429, 25921286, 25969154, 26020117, 26029999, 26049545, 26091938, 26150336, 26152745, 26238857, 26285774, 26327240, 26370320, 26490990, 26572167, 26617845, 26637806, 26637875, 26757925, 26758620, 26840024, 26996296, 27020553, 27102864, 27367674, 27374091, 27387378, 27458977, 27514754, 27528226, 27613604, 27824703, 27864124, 27913042, 27920206, 28125999, 28137267, 28190751, 28243121, 28326835, 28343102, 28358339, 28364502, 28381190, 28398518, 28430648, 28486225, 28518118, 28596515, 28695108, 28726519, 28736425, 28819416, 28851663, 28948499, 28956217, 28990139, 29050853, 29082764, 29100290, 29229675, 29250176, 29344233, 29416613, 29523123, 29530069, 29534901, 29567647, 29582375, 29604392, 29627822, 29682821, 29706119, 29900044, 29928062, 30007204, 30048924, 30061254, 30069818, 30160089, 30220706, 30221090, 30248046, 30317669, 30412911, 30554343, 30555755, 30610795, 30659021, 30717708, 30719107, 30759398, 30785136, 30880758, 30891998, 30944638, 30947381, 30950180, 31102292, 31147453, 31208440, 31250425, 31263095, 31280219, 31362265, 31393377, 31549393, 31586042, 31603915, 31611965, 31619711, 31638182, 31667787, 31669811, 31677196, 31732520, 31736063, 31740660, 31777581, 31781608, 31819528		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	17332509, 22174890		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	20187302, 29721059		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20735813		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	18402255		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19927294, 20007324, 22886526, 24069378, 27627801, 29322842, 35821262	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20007324, 20878131, 21803487, 22028624, 22394107, 22514116, 24789807, 29322842		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	27864124, 28516286		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28525381		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	31054360		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18612434, 20844808, 21118965, 21174061, 21225866, 23285214, 23426441, 24008862, 24886050, 24940615, 25256670, 25678473, 25691807, 25831148, 25955300, 26141860, 26675547, 27920206, 28000861, 28827262, 29549343, 29758924, 30802432, 30900377, 31202256, 31466290, 31638335		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	24547909		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	27871857		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	31054360		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	28525381		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18925963, 23045288, 25434862, 25576341, 26718870, 28606135, 29898423, 29970672, 30128626, 30612000, 30966832, 31473323		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	18925963, 18941626, 22870217, 25434862, 28606135, 29970672, 30966832, 36071872	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22643117, 23874550, 28868628, 34837909	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17868344, 18836486, 22643117, 24362529, 24862760, 27738346, 27878291, 28043921, 28525846, 28836469, 29725407, 29730663		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22080056, 22643117, 23055022, 24793306, 25625843, 26621735, 27837619, 28525846, 30126854, 30401718, 31336813, 32096174, 32242101, 34837909, 35867729, 36768723, 37628927	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20303649, 22322379, 23036582, 23672538, 24719318, 24734907, 25551472, 25829252, 25997702, 27367674, 27505247, 27654574, 28660570, 28970361, 29344263, 29947365, 30805710, 30991694, 31595775		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28659655, 28912624		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31740660		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18261235, 18349830, 20564084, 25240521, 26458814, 26530530, 26597727, 27367674, 27505247, 33878963	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	20564084, 36142575	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	28659655	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	28659655		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28687160		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	23996239, 25916394		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22382585	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	28396625		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	12824920		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31817862		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	16456866, 26324152	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20042663, 34008001	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	29328371	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	28137267		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36750863	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	31018934	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	21706482		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31018934		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	28190751		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27461622		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29113211		★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	28415725		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29907810		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	30328254	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17192875, 18492237, 20179163, 20717901, 21138868, 21801380, 23609451, 24088787, 25216351, 25661993, 25833838, 28083789, 28600675, 29775627, 29790189, 30275193, 31423179, 31732520, 31819373		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18492237, 19116269, 20531279, 22719071, 23138940, 23450810, 23609451, 24659666, 25450039, 25661993, 26485709, 26636522, 28083789, 30587522, 33910833, 35102615, 36593027, 37378942	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30728896		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	21258008, 23509326	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37838700	Stimulate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19724847, 20970309, 23537343, 29250176		★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	BEFREE	19468690		★☆☆☆☆ Found in Text Mining only
Renal Artery Stenosis	Renal Artery Stenosis	BEFREE	31614781		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	15558321, 21127401		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21127401, 22614155, 28056882, 29050853, 31423209, 31545459		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29929186		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	28840994, 31199449, 38072963	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	37761846	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	20393116, 29076766, 30110705, 31129250		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31576780, 32423767, 37975849, 40724865	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	18654668, 19718270, 22025579, 24154662, 25356976, 26103963, 26872967		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	20393116		★☆☆☆☆ Found in Text Mining only
Retinal macular dystrophy type 2	Retinal Macular Dystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	17605048, 20859302, 27082927, 28840994		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	17605048		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	20042663, 20393116, 20859302, 27082927, 28076437, 28840994, 29912909, 34008001, 37322672	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 41	Retinitis pigmentosa	Pubtator	31836589	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 41 (disorder)	Retinitis Pigmentosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 41 (disorder)	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 41 (disorder)	Retinitis Pigmentosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10587575, 29162051, 30935947		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	29162051, 31836589, 39519212	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	19362240, 20043111		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22156015, 22408058, 27314299		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	22156015, 22408058, 27314299	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31017736		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19718270, 20859302, 21496248, 24547909, 24763286, 26153215, 26702251, 30588538, 31136651		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27314299, 27374091, 29915281, 30999901		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	27314299	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	28766250	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	22231565, 26406410, 30899442		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	17785371		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29601599		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	19143028		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	24547909		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	24102054		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	25339000	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	19176379, 21174061, 23066953, 24436149, 30015975, 31446534		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	22825470	Stimulate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31446534	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19748175, 20844808, 21862685, 24102054, 24484648, 25374189, 31371076		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29604392, 30741466		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22119814, 23396254, 24758564, 26537085, 28159935, 29949786, 32176088, 36498950, 38096163, 39849873	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23527012, 29432994		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28220856, 28381190		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	22023137, 31604589		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	23602281		★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	10205271, 24763286, 28050124, 31576780, 33846575, 33988224, 34008001	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Stargardt Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
STARGARDT DISEASE 1 (disorder)	Stargardt disease	ORPHANET_DG	18654668		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CLINVAR_DG	30718709		★☆☆☆☆ Found in Text Mining only
Stargardt disease 3	Stargardt disease	Pubtator	28840994, 36930890	Associate	★☆☆☆☆ Found in Text Mining only
Stargardt disease 4	Stargardt Disease	UNIPROT_DG	18654668		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Stargardt Disease	BEFREE	28437526, 29416601		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Stargardt disease	Pubtator	31836589	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Stargardt Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Stargardt Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease 4	Stargardt Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	30999901		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20530428, 24302553, 25230779, 25862862, 27034262, 27489358, 27557490, 28326835, 29084052, 29229675, 29344155, 30061208, 30805710, 31438772, 31611965		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	21054902	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18542072		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20487522, 21054902, 21829201, 23558457, 25339008, 25727099, 26028069, 27489358, 27557490, 29422082, 30061208, 30717708, 31005794, 31217618, 31438772, 34160355, 37378943	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	28960167		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	19752721, 20167130, 23416969, 28498445		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26099525		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	19897677, 23201134, 24073856	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21151388, 33207860	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26678979	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	23081821, 24654752, 25770162, 28817605, 30160089, 30690057, 30771902		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	18958156, 25755746, 34184083	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	23081821, 24654752, 28817605, 30160089, 30690057, 30771902		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24654752, 28817605	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	39595993	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	21451132, 27789528		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	18612434		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21276138, 22626806, 24008095, 24330829, 28870198, 32571264	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22626806, 24330829, 25200065, 28870198, 31085078, 31516750, 31603127		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis 1	Tuberous sclerosis complex	Pubtator	22870217, 28030635	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26229399		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18180758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome	Usher Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine Cancer	Endometrial Cancer	CTD_human_DG	21919130		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21804471, 29609538, 32107047, 35295009	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Endometrial Neoplasms	CTD_human_DG	21919130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal Melanoma	BEFREE	21900792, 29049740		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	27476775	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31746407		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	25189742, 28695108		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	16163267, 17218907		★☆☆☆☆ Found in Text Mining only