FGFR3 (fibroblast growth factor receptor 3)

Gene

• Entrez ID: 2261
• Gene name: Fibroblast growth factor receptor 3
• Gene symbol: FGFR3
• Synonyms (NCBI Gene): ACH, CD333, CEK2, HSFGFR3EX, JTK4
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4647924	C>A,G,T	Not-provided, uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28928868	G>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs28931614	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs28931615	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs28933068	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs75790268	G>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs77722678	A>C,G	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs78311289	A>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs80053154	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913101	T>A,C,G	Pathogenic	Stop lost, coding sequence variant, terminator codon variant, missense variant, non coding transcript variant
rs121913103	A>C,G,T	Pathogenic	Stop lost, coding sequence variant, stop gained, terminator codon variant, missense variant, non coding transcript variant
rs121913105	A>C,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913111	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913112	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913113	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913114	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913115	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913116	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913479	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913480	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913482	C>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913483	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121913484	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121913485	A>G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs139020690	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs139707740	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs140594137	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148104605	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs199544087	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606808	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267606809	T>C,G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs367973461	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs397515514	G>T	Pathogenic	Stop lost, coding sequence variant, non coding transcript variant, terminator codon variant, synonymous variant
rs587776836	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777857	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778769	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778773	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587778775	G>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778776	T>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778801	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs587778811	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs587778816	C>A,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587778817	A>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs587779383	A>C,G,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs750641928	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs774517056	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs886043613	C>T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057517964	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1064796266	GGCTCGCGGACGTGAAGGGC>CCCTG	Likely-pathogenic	3 prime UTR variant, stop lost, coding sequence variant, non coding transcript variant, terminator codon variant, inframe indel
rs1453271838	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003419	hsa-miR-100-5p	Microarray, qRT-PCR, Western blot	19396866
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	19843843
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay, qRT-PCR, Western blot	19843843
MIRT004243	hsa-miR-99a-5p	Reporter assay;Western blot	21383697
MIRT030099	hsa-miR-26b-5p	Microarray	19088304
MIRT003419	hsa-miR-100-5p	qRT-PCR, Western blot	23778488
MIRT003419	hsa-miR-100-5p	Luciferase assay, QRTPCR, Western blotting	23778527
MIRT438420	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438419	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438418	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT438420	hsa-miR-425-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438419	hsa-miR-152-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT438418	hsa-miR-24-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23174883
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT004243	hsa-miR-99a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24456664
MIRT611038	hsa-miR-8485	HITS-CLIP	23313552
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT003419	hsa-miR-100-5p	Luciferase reporter assay	26604796
MIRT629080	hsa-miR-8064	HITS-CLIP	27418678
MIRT629080	hsa-miR-8064	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT611038	hsa-miR-8485	HITS-CLIP	27418678
MIRT737178	hsa-miR-99a-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	32038996
MIRT611038	hsa-miR-8485	HITS-CLIP	23313552
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT629080	hsa-miR-8064	HITS-CLIP	23824327
MIRT629079	hsa-miR-4764-5p	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT611038	hsa-miR-8485	HITS-CLIP	23824327
MIRT996140	hsa-miR-101	CLIP-seq
MIRT996141	hsa-miR-1180	CLIP-seq
MIRT996142	hsa-miR-132	CLIP-seq
MIRT996143	hsa-miR-1470	CLIP-seq
MIRT996144	hsa-miR-194	CLIP-seq
MIRT996145	hsa-miR-212	CLIP-seq
MIRT996146	hsa-miR-4267	CLIP-seq
MIRT996147	hsa-miR-4452	CLIP-seq
MIRT996148	hsa-miR-4484	CLIP-seq
MIRT996149	hsa-miR-4664-3p	CLIP-seq
MIRT996150	hsa-miR-4667-3p	CLIP-seq
MIRT996151	hsa-miR-4672	CLIP-seq
MIRT996152	hsa-miR-4680-3p	CLIP-seq
MIRT996153	hsa-miR-4691-5p	CLIP-seq
MIRT996154	hsa-miR-4704-5p	CLIP-seq
MIRT996155	hsa-miR-4713-3p	CLIP-seq
MIRT996156	hsa-miR-4789-5p	CLIP-seq
MIRT996157	hsa-miR-486-3p	CLIP-seq
MIRT996158	hsa-miR-548ag	CLIP-seq
MIRT996159	hsa-miR-548ai	CLIP-seq
MIRT996160	hsa-miR-548an	CLIP-seq
MIRT996161	hsa-miR-548m	CLIP-seq
MIRT996162	hsa-miR-642a	CLIP-seq
MIRT996163	hsa-miR-766	CLIP-seq
MIRT996164	hsa-miR-802	CLIP-seq
MIRT996165	hsa-miR-100	CLIP-seq
MIRT996166	hsa-miR-3921	CLIP-seq
MIRT996167	hsa-miR-4653-5p	CLIP-seq
MIRT996168	hsa-miR-593	CLIP-seq
MIRT996169	hsa-miR-622	CLIP-seq
MIRT996170	hsa-miR-99a	CLIP-seq
MIRT996171	hsa-miR-99b	CLIP-seq
MIRT996172	hsa-miR-1226	CLIP-seq
MIRT996173	hsa-miR-15a	CLIP-seq
MIRT996174	hsa-miR-15b	CLIP-seq
MIRT996175	hsa-miR-16	CLIP-seq
MIRT996176	hsa-miR-195	CLIP-seq
MIRT996177	hsa-miR-214	CLIP-seq
MIRT996178	hsa-miR-3619-5p	CLIP-seq
MIRT996179	hsa-miR-424	CLIP-seq
MIRT996180	hsa-miR-4530	CLIP-seq
MIRT996181	hsa-miR-4687-3p	CLIP-seq
MIRT996182	hsa-miR-497	CLIP-seq
MIRT996183	hsa-miR-627	CLIP-seq
MIRT996184	hsa-miR-634	CLIP-seq
MIRT996185	hsa-miR-761	CLIP-seq
MIRT996186	hsa-miR-767-5p	CLIP-seq
MIRT996187	hsa-miR-924	CLIP-seq
MIRT1995378	hsa-miR-4254	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SHOX	Activation	21273290
SP1	Unknown	22334592
SP3	Unknown	22334592
SP4	Unknown	22334592
STAT1	Repression	16410555

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS	10918587
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	TAS	8601314
GO:0001503	Process	Ossification	IEA
GO:0001958	Process	Endochondral ossification	TAS	15748888
GO:0002062	Process	Chondrocyte differentiation	TAS	15748888
GO:0003416	Process	Endochondral bone growth	TAS	15748888
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	11294897
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IBA
GO:0005007	Function	Fibroblast growth factor receptor activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IMP	8663044
GO:0005007	Function	Fibroblast growth factor receptor activity	TAS	10918587
GO:0005515	Function	Protein binding	IPI	14732692, 16169070, 22939624, 25036637, 32814053, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	18061161
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8663044, 18061161
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10918587
GO:0005925	Component	Focal adhesion	TAS	15748888
GO:0006915	Process	Apoptotic process	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IMP	11294897
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IGI	8663044
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	8663044, 11294897
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IGI	8663044
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	10918587
GO:0009986	Component	Cell surface	IEA
GO:0010518	Process	Positive regulation of phospholipase activity	IMP	17561467
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IDA	8663044
GO:0017134	Function	Fibroblast growth factor binding	IEA
GO:0017134	Function	Fibroblast growth factor binding	IPI	12815063
GO:0030133	Component	Transport vesicle	IDA	18061161
GO:0030282	Process	Bone mineralization	ISS	20582225
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035988	Process	Chondrocyte proliferation	TAS	15748888
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	17561467
GO:0042802	Function	Identical protein binding	IPI	14732692, 23972473, 24120763
GO:0043235	Component	Receptor complex	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11294897
GO:0048640	Process	Negative regulation of developmental growth	ISS	20582225
GO:0051216	Process	Cartilage development	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	11294897
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	15748888
GO:0060349	Process	Bone morphogenesis	IEA
GO:0060349	Process	Bone morphogenesis	ISS	20582225
GO:0060349	Process	Bone morphogenesis	TAS	15748888
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	11294897
GO:0070977	Process	Bone maturation	ISS	20582225
GO:1902178	Process	Fibroblast growth factor receptor apoptotic signaling pathway	IMP	17561467

Other IDs

• MIM: 134934
• HGNC: 3690
• e!Ensembl: ENSG00000068078

Protein

• UniProt ID: P22607
• Protein name: Fibroblast growth factor receptor 3 (FGFR-3) (EC 2.7.10.1) (CD antigen CD333)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocy
• PDB: 1RY7, 2LZL, 4K33, 6LVM, 6PNX, 7DHL, 7YSU, 8UDT, 8UDU, 8UDV, 9CD7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	160 → 245	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	252 → 343		Domain
  PF18123	FGFR3_TM	369 → 399	Fibroblast growth factor receptor 3 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	472 → 748	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22-week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liv
• Sequence:

  MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELS
  CPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCH
  FSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAG
  NPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQT
  YTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGP
  DGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHHSAWLVVLPAE
  EELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLK
  RQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGE
  GCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIIN
  LLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQ
  VARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKW
  MAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCT
  HDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSS
  SSSGDDSVFAHDLLPPAPPSSGGSRT

• Sequence length: 806

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Endocytosis
PI3K-Akt signaling pathway
Signaling pathways regulating pluripotency of stem cells
Regulation of actin cytoskeleton
Pathways in cancer
MicroRNAs in cancer
Bladder cancer
Central carbon metabolism in cancer

Reactome:

PI3K Cascade
PIP3 activates AKT signaling
Signaling by activated point mutants of FGFR3
FGFR3b ligand binding and activation
FGFR3c ligand binding and activation
FGFR3 mutant receptor activation
t(4;14) translocations of FGFR3
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade; FGFR3
SHC-mediated cascade:FGFR3
FRS-mediated FGFR3 signaling
PI-3K cascade:FGFR3
Negative regulation of FGFR3 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signaling by FGFR3 fusions in cancer
Signaling by FGFR3 point mutants 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
46,XY disorder of sex development	Likely pathogenic	rs2546829391	RCV003126295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs4647924	RCV001813993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Achondroplasia	Likely pathogenic; Pathogenic	rs1360936268, rs2108797528, rs199702395, rs28931614, rs75790268, rs121913482, rs28933068, rs121913483, rs4647924, rs121913485, rs77722678, rs121913114, rs121913116, rs121913479, rs121913103	RCV001806350 RCV002227915 RCV003404135 RCV000017724 RCV000017725 RCV000017727 RCV001804739 RCV000353403 RCV001332222 RCV003989294 RCV001334261 RCV005859467 RCV002262566 RCV000017766 RCV001334259 RCV003989295 RCV004760363	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Pathogenic; Likely pathogenic	rs587777857, rs28931614, rs121913113, rs1057519049, rs774517056	RCV000144699 RCV003227605 RCV000017765 RCV004719036 RCV000770821	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma of colon	Pathogenic	rs121913111, rs587776836	RCV000017761 RCV000017762	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs121913482, rs121913483	RCV001196297 RCV000017743	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Pathogenic; Likely pathogenic	rs28931614, rs121913482, rs28933068, rs121913483, rs397515514	RCV002276551 RCV002276552 RCV002276553 RCV002276554 RCV002276678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniosynostosis syndrome	Pathogenic; Likely pathogenic	rs28931615, rs4647924	RCV000194803 RCV000193831	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis, nonspecific	Likely pathogenic; Pathogenic	rs1057519049	RCV000415500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Crouzon syndrome-acanthosis nigricans syndrome	Pathogenic; Likely pathogenic	rs28931615, rs4647924	RCV000017726 RCV003483434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermal nevus	Pathogenic	rs28931614, rs121913482, rs121913479	RCV000029207 RCV000017734 RCV000029208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGFR3-related chondrodysplasia	Pathogenic; Likely pathogenic	rs121913482, rs28933068, rs4647924, rs121913105	RCV001849270 RCV004786271 RCV002273933 RCV004786329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGFR3-related disorder	Pathogenic; Likely pathogenic	rs28931614, rs78311289, rs121913482, rs121913103, rs28933068, rs121913483, rs4647924, rs121913485, rs121913105, rs397515514	RCV004545731 RCV004532375 RCV004532376 RCV002243648 RCV004528117 RCV004541008 RCV004737156 RCV004532377 RCV004554603 RCV004737157 RCV001254893 RCV004738226	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hamartoma	Pathogenic	rs121913482	RCV001526641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypochondroplasia	Pathogenic; Likely pathogenic	rs1044021305, rs2546817560, rs28931614, rs28933068, rs4647924, rs121913105, rs77722678, rs28928868, rs78311289, rs121913114, rs121913115, rs121913116, rs1057517964, rs587778775	RCV002052286 RCV003228715 RCV001807732 RCV000987394 RCV000017740 RCV000017741 RCV000987393 RCV002310592 RCV000017753 RCV000017755 RCV000017756 RCV000017757 RCV000017758 RCV000017767 RCV000017768 RCV000017769 RCV001775150 RCV000056066 RCV000056100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs28931614	RCV005624694	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Larsen syndrome	Likely pathogenic; Pathogenic	rs28933068	RCV001804740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplastic disease	Pathogenic	rs121913483	RCV003758684	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs761896295, rs2108807160, rs121913480, rs121913482, rs121913483, rs78311289	RCV003332976 RCV003332978 RCV003332979 RCV003332082 RCV000017744 RCV000144153	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muenke syndrome	Pathogenic; Likely pathogenic	rs28931614, rs121913482, rs4647924, rs1721198491	RCV004798732 RCV004798733 RCV000017746 RCV002283520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Pathogenic	rs78311289, rs121913482	RCV000017729 RCV000017732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs121913483, rs121913485, rs121913479	RCV006273059 RCV006273060 RCV004668734	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs28933068, rs77722678	RCV002273932 RCV002273934	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen syndrome	Likely pathogenic; Pathogenic	rs4647924	RCV000017747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Pathogenic	rs121913482, rs121913483	RCV000017735 RCV000017745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Pathogenic	rs28931614, rs121913105	RCV004783725 RCV004558267	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic; Pathogenic	rs1057519049, rs28933068, rs121913115	RCV001785367 RCV000415460 RCV000415056	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia with acanthosis nigricans	Pathogenic	rs121913482	RCV000017733	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatocytic seminoma	Pathogenic	rs78311289	RCV000017730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs121913483	RCV000420501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia	Pathogenic; Likely pathogenic	rs78311289, rs121913479, rs121913101	RCV003317039 RCV003493410 RCV003322750	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia type 1	Pathogenic; Likely pathogenic	rs1358618786, rs78311289, rs121913482, rs121913484, rs121913101, rs121913103, rs121913483, rs4647924, rs121913105, rs121913485, rs121913479, rs397515514	RCV001376025 RCV003234912 RCV000017731 RCV000017736 RCV000017737 RCV000017738 RCV000017739 RCV000017742 RCV003483434 RCV000017750 RCV000017751 RCV000017770 RCV000055763 RCV000055764 RCV000055765 RCV000055766 RCV004796410	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thanatophoric dysplasia, type 2	Pathogenic	rs78311289, rs121913482, rs121913483, rs397515514	RCV000017728 RCV003388567 RCV004795921 RCV004796410	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, TRANSITIONAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classic Hodgkin lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONAL CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL DYSOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGFR3-related CATSHL syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genu varum	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL GLIOBLASTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth failure in early childhood	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LACRIMOAURICULODENTODIGITAL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome 2	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LADD SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LADD SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LADD SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Levy-Hollister syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian neoplasm	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign; not provided; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TESTICULAR GERM CELL TUMOR	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THANATOPHORIC DYSPLASIA TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THANATOPHORIC DYSPLASIA, TYPE I	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THANATOPHORIC DYSPLASIA, TYPE II	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	10053006, 10541159, 11039354, 11870239, 14987407, 16841094, 18000903, 18583390, 19622626, 20453470, 21510009, 26818779, 28181399, 29068064, 29351036, 30168875, 30380187, 30635042, 30762251, 31016899, 8880573, 9182787		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	LHGDN	15517832, 17875876, 18000903, 18583390		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	CLINVAR_DG	17875876, 18000903		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	10053006, 10712195, 10890199, 10979354, 11055896, 11904459, 12368206, 12397172, 12929929, 16434832, 16766665, 16778799, 16841094, 16950849, 17320202, 17507011, 17525745, 18794123, 19789973, 19802676, 19898608, 20963478, 21324899, 22529939, 22747519, 22879958, 23056398, 23740942, 24397339, 24616001, 26686765, 26850935, 27370225, 28679403, 29170271, 30160829, 30355600, 30381765, 31857328, 31975530, 32335626, 33340121, 33368972, 33848795, 34006999, 34332609, 34341520, 34454631, 35138050, 35710503, 36859260, 36922864, 37076826, 38070826, 38428804, 39243045, 39603591, 40306613, 7847369, 8661097, 9151669, 9258750, 9718331	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	BEFREE	10102070, 10200283, 10360392, 10360393, 10587515, 10890199, 10979354, 11426459, 11518810, 11904459, 12297284, 12378581, 12397172, 12733711, 12816345, 12929929, 14671399, 14751560, 15221641, 15241680, 15345118, 15565648, 16355813, 16411219, 16434832, 16475234, 16476447, 16575888, 16634636, 16766665, 16778799, 16841094, 16912704, 17256796, 17466614, 17507011, 17554105, 17561467, 17630040, 17683901, 18196933, 18199430, 18485666, 18794123, 18923003, 19215249, 19622626, 19802676, 19898608, 20034074, 20601886, 20624921, 20673820, 20922792, 20963478, 21324899, 21487019, 21739570, 21910223, 22045636, 22339077, 22529939, 22559284, 22634226, 22747519, 22946287, 23014564, 23056398, 23200862, 23740942, 24324705, 24419316, 24616001, 24657641, 24864036, 25119967, 25691418, 25931420, 26377240, 26684019, 26686765, 26850935, 27040652, 27064282, 27260401, 27370225, 27506979, 27767902, 27836589, 27987249, 28181399, 28230213, 28520086, 28679403, 28785080, 28802681, 29040558, 29104492, 29170271, 29323153, 29360984, 29496218, 29542187, 29652901, 29681095, 30160829, 30487289, 31048079, 31120905, 31177591, 7493034, 7649548, 7670477, 7702086, 7758520, 7773297, 7847369, 7913883, 8078586, 8599935, 8630492, 8640234, 8661097, 8682509, 8742128, 8755573, 8809893, 8878289, 8879993, 9001669, 9055906, 9115628, 9124710, 9158142, 9199352, 9258750, 9300204, 9401015, 9718331, 9811582, 9887329		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	GENOMICS_ENGLAND_DG	10200283, 16501574, 7647778, 8078586		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	CLINGEN_DG	10200283, 14699054, 7913883, 8078586, 9811582		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	UNIPROT_DG	10611230, 12297284, 7758520, 7847369, 8078586, 8599935		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	LHGDN	11556601, 11754059, 12921294, 15517832, 16634636, 17624273, 18923003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	CLINVAR_DG	16912704		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	ORPHANET_DG	23149434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia	Achondroplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	BEFREE	10053006, 10377013, 11055896, 17561467, 17875876, 18076102, 19622626, 20034074, 24352917, 25119967, 27987249, 28181399, 29242050		★☆☆☆☆ Found in Text Mining only
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	ORPHANET_DG	10053006, 18076102		★☆☆☆☆ Found in Text Mining only
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	UNIPROT_DG	10053006		★☆☆☆☆ Found in Text Mining only
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	CLINVAR_DG	16912704		★☆☆☆☆ Found in Text Mining only
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	GENOMICS_ENGLAND_DG	8841188		★☆☆☆☆ Found in Text Mining only
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	SADDAN dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrodermatitis continua of Hallopeau	Acrodermatitis Continua Of Hallopeau	BEFREE	30036598		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	19298285		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15514005		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17949785, 26487184, 28838400, 29110841		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23661334, 23867472, 25294908, 27998968, 29850625		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	25157968		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	24390213		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17545515		★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	28821955		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28264149		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28264149		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28108755		★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	BEFREE	17525745, 17552943, 23880303		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	17545515		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	BEFREE	22544111		★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31662319		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	39342401, 40594127	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28379477		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	28379477	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	12121305, 27336596		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	11290605		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15897243		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of bladder	Benign Neoplasm Of Bladder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11517011		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	33340121	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	36257294	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11245416, 11395371, 11466624, 12461689, 12910517, 15690367, 16061860, 16144932, 16278391, 16278395, 16288035, 16384584, 16570285, 16778799, 16877735, 16885334, 17085196, 17255960, 17384684, 17668422, 17673550, 17697126, 17803960, 18231634, 18241002, 19031931, 19381019, 19621447, 19637316, 19749790, 19789314, 19843069, 19855393, 19909015, 19955487, 20123356, 20542753, 20646825, 20822928, 20824703, 20957671, 21062653, 21264819, 21632885, 21683397, 22099989, 22285006, 22417847, 22820081, 22873290, 23019225, 23108201, 23175443, 23272046, 23558953, 23650517, 23778527, 24347284, 24466111, 24634132, 24784839, 24880661, 24898159, 25223521, 25284004, 25326231, 25654736, 25657201, 25809917, 25997541, 26254388, 26364695, 26374428, 26542242, 26901314, 26924873, 27091807, 27268915, 27271022, 27586786, 27611947, 27669755, 27930669, 28049011, 28069289, 28320388, 28388658, 28927152, 29226855, 29423038, 29463565, 30650148, 30952872, 30975452, 30977669, 30999937, 31028457, 31066120, 31316618, 31377167		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12461689, 16278395, 16570285, 16885334, 17384684, 17803960, 17867592		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	19855393, 20348956, 21936542, 24121792		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharospasm	Blepharospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	19530187		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	21324899, 31048079, 9069288		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21324899	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	11781872, 25311528, 26415661	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	37192015	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	17033969, 24864036, 25311528, 26415661, 9842995, 9887329		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	25311528	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	ORPHANET_DG	10914960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	BEFREE	12087222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	Pubtator	24075385	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	9600744		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35616216	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11329138, 22124578, 25071007, 26431494		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20126581, 24548884, 25071007, 26431494, 30745300, 31754145, 31987043, 32348852, 32381997, 32852708, 36011273, 36470901	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	29096805		★☆☆☆☆ Found in Text Mining only
Camptodactyly-tall stature-scoliosis-hearing loss syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	22203473, 22873290		★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	15655558	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16149130, 23650517, 23972473, 25311528, 25686244, 28855393, 35991125, 38609519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CLINVAR_DG	10471491, 11429702, 12009017, 15880580, 19165726, 9857065		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10918587, 11114733, 11395371, 11526491, 11605053, 11745189, 11904459, 12237885, 12461689, 14678961, 15026322, 15558020, 15690367, 15701828, 15869706, 16278391, 16532037, 16877735, 19031931, 19287463, 20439987, 21547910, 22422578, 25326864, 27029078, 27530957, 28515962, 31028363		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	22203473	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15026322, 27029078	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	23784824	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16149130, 32161315, 32378800, 33097695, 36179047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16965395	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	23784824	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11245416, 11395371, 11466624, 11745189, 12461689, 14678961, 15347601, 15690367, 16061860, 16144932, 16278391, 16278395, 16288035, 16384584, 16570285, 16778799, 17384684, 17668422, 17697126, 17803960, 18413799, 19031931, 19381019, 19621447, 19855393, 19955487, 20123356, 20348956, 20542753, 20646825, 20822928, 20824703, 21062653, 21264819, 21632885, 22099989, 22417847, 22422578, 22820081, 22873290, 23019225, 23108201, 23175443, 23272046, 23558953, 23778527, 24360661, 24466111, 24634132, 24784839, 24880661, 24898159, 25071007, 25223521, 25284004, 25326231, 25654736, 25657201, 25809917, 25997541, 26254388, 26364695, 26374428, 26542242, 26901314, 26924873, 27091807, 27268915, 27271022, 27356691, 27586786, 27611947, 27664399, 27669755, 27930669, 28049011, 28069289, 28320388, 28388658, 28927152, 29226855, 29423038, 29463565, 29525349, 30650148, 30952872, 30975452, 30977669, 30999937, 31028457, 31066120, 31316618, 31377167		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	19381019, 20542753, 25157968		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29299828		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21383697, 21577207, 23661334, 24452392, 25589496, 29679612, 29850625		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26318045	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17384684, 25071007, 31098421	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	35662501	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19327639, 24323028, 25556475, 25589618, 26486077, 27154171, 29980281, 32596330, 34160364, 34851968	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	21264819	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19298285		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24456664		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27701424, 36227956	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	BEFREE	11140704, 16476576		★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	CLINVAR_DG	16912704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	UNIPROT_DG	17033969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	GENOMICS_ENGLAND_DG	17033969, 7647778, 8841188		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	ORPHANET_DG	17033969, 24864036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Catshl syndrome	Pubtator	26415661, 37990933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	BEFREE	27139183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATSHL syndrome	Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	UNIPROT_DG	10471491		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
cervical cancer	Cervical Cancer	BEFREE	22285006, 26869289, 29358619, 30616520		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
cervical cancer	Cervical Cancer	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	11466624, 12461689, 22285006, 26869289, 29358619, 30616520		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	11186885		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28255027, 28445152, 32596330, 35986087, 36190545, 36462464	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	17561467		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	20542174		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	24324705		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24445144	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15897243, 25441688		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29360984		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	36190545	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29691279, 29777683		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20234367		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10945607, 11325814, 20234367, 26078354, 28340475, 30181810		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19901323, 20234367, 21356388, 24619956, 28675510, 31729423, 31782259	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	33186471	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22879958, 37806643	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	23551494		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	17441958		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	17033969		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	26661925		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	16501574		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21632885, 22203473, 29805741		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	10761652, 18317141, 19086028, 27568649, 9600744		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronal craniosynostosis	Coronal craniosynostosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronal hypospadias	Coronal hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	24075385	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	10541159, 11870239, 19622626, 31016899, 7493034, 8880573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	16384584, 16778799, 23437153, 26244699, 31016899, 8880573, 9151669	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	10541159, 11870239, 19622626, 31016899, 7493034, 8880573		★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	29096805		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	14629875, 18000976, 19327639, 19898608, 20592905, 20643727, 24578066, 31111620, 9042914, 9279753, 9279764, 9682222, 9784595, 9950359	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CLINVAR_DG	10094188, 10360392, 10861678, 11038465, 11055896, 11426459, 11754059, 11879084, 14613973, 15915095, 16912704, 17033969, 17384684, 17875876, 18583390, 18976668, 19088846, 19749790, 20199409, 20453470, 21510009, 21536014, 21739570, 22045636, 23149434, 23165795, 23437153, 24476948, 25606676, 25614871, 25691418, 25809207, 26740388, 26818779, 27139183, 28249712, 7493034, 7670477, 8589686, 8589699, 8723101, 8845844, 8880573, 9042914, 9452043		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	10377013, 10425034, 10751173, 10914960, 11114733, 11467490, 11526491, 12461689, 14629875, 15241680, 15625620, 17033969, 17172848, 18000976, 18317141, 18818193, 19086028, 19243295, 19898608, 20707699, 22038757, 22145492, 22871183, 22872265, 23044018, 23239640, 23378035, 24419316, 24864036, 9042914, 9107244, 9279753, 9279764, 9585583, 9677057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	LHGDN	12664252, 12764678, 17414280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crouzon Syndrome With Acanthosis Nigricans	Crouzon syndrome with acanthosis nigricans	Pubtator	14969379	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	Crouzon Syndrome-Acanthosis Nigricans Syndrome	BEFREE	10696568, 11426459, 16384584, 17935505, 23437153, 28181399, 29351036, 7493034		★☆☆☆☆ Found in Text Mining only
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	Crouzon Syndrome-Acanthosis Nigricans Syndrome	GENOMICS_ENGLAND_DG	16501574, 20199409, 7493034, 7647778, 8078586		★☆☆☆☆ Found in Text Mining only
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	Crouzon Syndrome-Acanthosis Nigricans Syndrome	CLINVAR_DG	16912704, 18976668, 20199409, 21536014, 7493034, 9857065		★☆☆☆☆ Found in Text Mining only
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	Crouzon Syndrome-Acanthosis Nigricans Syndrome	UNIPROT_DG	17935505, 7493034		★☆☆☆☆ Found in Text Mining only
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	Crouzon Syndrome-Acanthosis Nigricans Syndrome	CTD_human_DG	23437153		★☆☆☆☆ Found in Text Mining only
Crouzon syndrome-acanthosis nigricans syndrome	Crouzon Syndrome-Acanthosis Nigricans Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	31619201		★☆☆☆☆ Found in Text Mining only
Cutis Gyrata Syndrome of Beare And Stevenson	Beare-stevenson cutis gyrata syndrome	Pubtator	17525745, 9733036	Associate	★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28043938, 28520086, 29540697, 30273654		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentin dysplasia type 1	Dentin dysplasia	Pubtator	19789973	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28264149		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	39922722	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	20386568	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	14987407, 20298673		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	10053006, 16778799, 36358993	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29478821		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39342401	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	37956738	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	8791509		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	24397339	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21225389		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29361062	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10200283, 10587515, 10890199, 11114733, 11518810, 12354143, 12461689, 12816345, 15254256, 15748888, 15946934, 16338952, 16634636, 16912704, 17154237, 17561467, 19802676, 20624921, 20673820, 20922792, 21324899, 22045636, 22529939, 22559284, 22634226, 23056398, 25650377, 25777271, 26684019, 27040652, 27064282, 27260401, 27987249, 28230213, 28964968, 29323153, 30168875, 30487289, 7913883, 9124710, 9811582, 9887329		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	10890199, 17320202, 21324899, 22529939, 23056398, 23972473, 24397339, 32335626, 9784595	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	15625620, 36714562	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10053006, 10213050, 10602123, 10777366, 12707965, 15241680, 16501574, 17033969, 17935505, 17950653, 18000976, 18328977, 18344207, 19098178, 19449410, 1956068, 22045636, 22604720, 23165795, 23378035, 23740942, 24864036, 25356217, 25931420, 26028288, 26740388, 4078868, 7670477, 7847369, 8845844, 9450868, 9580776, 9677066, 9950359		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24859745		★☆☆☆☆ Found in Text Mining only
Ellis Van Creveld Syndrome	Ellis-van creveld syndrome	Pubtator	8661097	Associate	★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	16763840		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29588307, 32596330	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	28468611, 31660579		★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	21639936, 25928347, 28434888	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	30220708	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	GENOMICS_ENGLAND_DG	18000976		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	24630288		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	18000976		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23044018, 27485793		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	29170271	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia multiple 2	Epiphyseal dysplasia	Pubtator	9258750	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24456664		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26487184		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	26487184	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25535896, 26487184, 32908901, 33381388	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26487184		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	18231572		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	28821194		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28481834		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	17437409		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	25432174		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25432174, 31948066	Associate	★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	30036598		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	24812411		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	ORPHANET_DG	22837387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Giant cell glioblastoma	Giant Cell Glioblastoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	23298836, 23409016, 23696246, 26869289, 29323298, 31590360		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23409016, 27829236, 28976058, 29361062, 31290679, 32949176, 33168106, 33853673, 35151844, 36002559, 36194351, 36647073, 39357189	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22837387, 23298836, 23409016, 23696246, 26869289, 29323298		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22837387, 23298836, 25609060, 27829236, 28379477, 28468611, 28852916		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27829236, 28379477, 28468611, 28976058, 29718398, 32413119, 32949176, 34160364, 35344029, 36462464, 36647073	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27852048	Inhibit	★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	ORPHANET_DG	22837387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gliosarcoma	Gliosarcoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	16476447, 19622626		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	11781872, 23437153, 27370225, 33270637, 34740356, 35250876, 36714562, 9321756, 9784595	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	25589618, 28525363	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	26415661	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	18000976, 9042914	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioblastoma	Hemangioblastoma	BEFREE	29805741		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	21521775		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	31987043	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	20707699		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	36071243	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	32596330	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	9811582		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18528286		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11152656, 7913883		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	24075385, 40603987	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	24670087		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	24670087	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	18583390		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	10200283, 11742142, 24657641		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	20592905	Associate	★☆☆☆☆ Found in Text Mining only
Hypochondroplasia	Hypochondroplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	10215410, 10360392, 10360393, 10395236, 10564875, 10890199, 11015576, 11030412, 11055896, 11071087, 11754059, 12461689, 12733711, 12794698, 14755409, 15345118, 16020314, 16222682, 16355813, 16575888, 16912704, 17320202, 17561467, 17621485, 18583390, 19215249, 19243295, 19898608, 20034074, 21225389, 21510009, 22137367, 22302603, 22903874, 23149434, 23165795, 23649205, 23726269, 24411048, 24630288, 24715719, 25777271, 26867606, 27987249, 28679403, 28763161, 29068064, 29080836, 29150894, 30160829, 30335613, 30681580, 30762251, 31048079, 31177591, 7670477, 7702086, 8589686, 8879993, 9055906, 9300204, 9450868, 9672519, 9842995, 9887329		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	UNIPROT_DG	10215410, 10777366, 11055896, 12707965, 7670477, 9452043		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	CLINVAR_DG	16912704, 26380986		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	GENOMICS_ENGLAND_DG	18000976, 7647778, 8841188		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	ORPHANET_DG	23149434		★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	28763161		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of lower limb	Hypoplasia Of Lower Limb	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23778527	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34484235	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31650561		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29691279, 29777683		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31830366		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18317141, 24168007		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	9279753	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disease	Intervertebral disc disease	Pubtator	26279428	Associate	★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	29626475		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	18503601		★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	23614918, 26319365	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	16778799, 17392824, 17568799, 17673550, 21078999	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	22203473	Associate	★☆☆☆☆ Found in Text Mining only
Lacrimal Puncta, Absence of	Absent lacrimal punctum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	UNIPROT_DG	16501574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	GENOMICS_ENGLAND_DG	16501574, 7647778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	ORPHANET_DG	16501574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CLINVAR_DG	16912704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	BEFREE	19215249, 28483234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital syndrome	Pubtator	37990933	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lafora Disease	Lafora Disease	BEFREE	29909202		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	29700339		★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	29700339	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leri-Weill dyschondrosteosis	Leri-Weill Dyschondrosteosis	BEFREE	11030412, 22946287		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11380477, 15514005, 22329352		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15514005		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	26465941		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	29909202		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	26279428		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear Verrucous Epidermal Nevus	Linear Verrucous Epidermal Nevus	BEFREE	24346875		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16149130, 27044356, 27267910, 28058595, 29463348		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	26279428		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24236184, 29850625, 35305401, 36927233	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21547910, 24933362, 36927233	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	19855393	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	18528286, 20651335		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18528286		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	24804818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11329138, 22124578, 23658459, 25071007, 26431494		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29299828		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17949785, 21383697, 21577207, 23661334, 24452392, 25589496, 29679612, 29850625		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11170144, 19377444, 20957671, 21116115, 25352177, 31266816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	26661925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19729838		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17697126		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28525363, 30061236		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	UNIPROT_DG	10471491, 11314002		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11245416, 11466624, 12461689, 15690367, 16061860, 16144932, 16278391, 16278395, 16288035, 16384584, 16570285, 16778799, 16877735, 17384684, 17668422, 17697126, 17803960, 17912529, 18241002, 19031931, 19381019, 19621447, 19855393, 19901323, 19955487, 20123356, 20298673, 20348956, 20542753, 20646825, 20822928, 20824703, 21062653, 21264819, 21632885, 22099989, 22417847, 22820081, 22873290, 23019225, 23108201, 23175443, 23272046, 23468956, 23558953, 23778527, 24466111, 24634132, 24784839, 24880661, 24898159, 25223521, 25284004, 25326231, 25654736, 25657201, 25809917, 25997541, 26254388, 26364695, 26374428, 26542242, 26901314, 26924873, 27091807, 27268915, 27271022, 27356691, 27586786, 27611947, 27669755, 27930669, 28049011, 28069289, 28320388, 28388658, 28927152, 29226855, 29423038, 29463565, 29941343, 30650148, 30952872, 30975452, 30977669, 30999937, 31028457, 31066120, 31316618, 31377167		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	19855393, 20348956, 21936542, 24121792		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10704676, 11114733, 11290605, 12461689, 15558020, 15748888, 17172848, 17607666, 18231634, 18728396, 19621447, 20234367, 20539070, 20601886, 21116115, 21273588, 21383697, 21487019, 21504907, 21521775, 22203473, 22285006, 23298836, 23744832, 24295726, 24466111, 24626198, 24846059, 25311528, 26244699, 26661925, 26778714, 26869289, 27267910, 27271022, 27870574, 27885740, 27932416, 28255359, 28377483, 28379477, 28855393, 29110841, 29262532, 29323298, 29478821, 30171725, 30975452, 31272788, 31438996, 31619201, 31788102		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22285006, 26869289, 29358619, 30616520		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20234367		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17602067		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	27095246, 574370		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18677770, 22730329, 28928360, 31619201		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18677770		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21753785, 22730329, 28870692, 28928360, 32493317	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19698046, 31565188		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28264149		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18317141		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	29656754, 31527449	Associate	★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	9865713		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	21156229		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	39922722	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	26465941	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36812689	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	20539070, 29037125	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	18000903		★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke Syndrome	UNIPROT_DG	11746040, 9042914, 9950359		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke Syndrome	BEFREE	12794698, 17103449, 18000976, 18818193, 19086028, 19215249, 19755431, 20592905, 22038757, 22872265, 23044018, 23378035, 24168007, 24705944, 27568649, 27683237, 31111620, 9600744		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke Syndrome	CLINVAR_DG	16912704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke Syndrome	GENOMICS_ENGLAND_DG	18000976, 7493034, 7647778, 8078586, 8841188		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke syndrome	Pubtator	18000976, 19755431, 20592905, 26028288, 31111620, 32505898, 32510873, 39922722, 9950359	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke syndrome	Muenke Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke Syndrome	ORPHANET_DG	21438135		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muenke Syndrome	Muenke Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	10648414, 10918587, 10945609, 11154227, 11157491, 11290605, 11418483, 11429702, 11466624, 11529856, 11722983, 11904459, 12028033, 12139740, 12368157, 12393535, 12433679, 12461689, 12846810, 12907145, 14562121, 14715624, 14871245, 15029211, 15090448, 15198734, 15543617, 15761022, 15772091, 15897243, 16115125, 16467200, 16849642, 17172848, 17223917, 17460451, 17498561, 18528286, 19147757, 19286672, 19331127, 19381019, 19594619, 19901323, 20393505, 20620602, 21156229, 21273588, 21316102, 21889435, 22160056, 22329352, 23174883, 23233602, 23460268, 23696246, 24466111, 25265432, 25402977, 27509849, 29040969, 30349651, 31036508, 9207791, 9354676, 9787135, 9865713		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	10648414, 11154227, 11418483, 11529856, 11904459, 12028033, 12393535, 12433679, 12969976, 14531906, 15198734, 15761022, 16115125, 16778799, 16849642, 17223917, 17303695, 17668422, 17785202, 17914559, 18794123, 19286672, 19331127, 19901323, 20511669, 22929983, 24466111, 24638926, 30755670, 33938208, 36639200, 9207791, 9354676, 9787135	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	11861292	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	LHGDN	12368157, 12433679, 15788896		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	CTD_human_DG	21936542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Dystrophy Emery Dreifuss	Emery dreifuss muscular dystrophy	Pubtator	36657019	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	20603331, 574370		★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	574370		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11380477, 14562121		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CLINVAR_DG	19331127, 21273588, 22869148		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	20123356		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	11605053, 25535896		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25535896	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11114733, 11157491, 11245416, 11290605, 11395371, 11418483, 11466624, 12731662, 12743143, 12749063, 12910517, 14633785, 14678961, 14715624, 14871245, 15026322, 15558020, 15564323, 15690367, 15772091, 15869706, 16149130, 16278391, 16278395, 16470587, 16877735, 16885334, 16915569, 17085196, 17384684, 17568799, 17668422, 18231634, 18241002, 18381641, 18413799, 19156776, 19377444, 19637316, 19698046, 19722178, 19843069, 20123356, 20187926, 20234367, 20298673, 20348956, 20393505, 20404005, 20542753, 20824703, 20957671, 21106220, 21119661, 21173382, 21264819, 21383697, 21577207, 21683397, 22203473, 22285006, 22417847, 22724020, 22873290, 22932667, 23019225, 23108201, 23142690, 23175443, 23185502, 23201384, 23272046, 23650517, 23784824, 23842048, 23867472, 23902722, 24018021, 24329908, 24347284, 24467821, 24525232, 24626198, 24804818, 24812411, 24846059, 25326864, 25657201, 25986726, 25997541, 26041878, 26254388, 26351323, 26364695, 26374428, 26661925, 26943575, 27022737, 27053219, 27091807, 27157475, 27197067, 27271022, 27345413, 27530957, 27669755, 27726892, 27846280, 27998968, 28069289, 28210881, 28255359, 28468611, 28583311, 28775129, 28852916, 29226855, 29242604, 29330265, 29463348, 29463565, 29525349, 29573965, 30043421, 30154342, 30650148, 30887605, 30975452, 31028363, 31093971, 31266816, 31272788, 31377167, 31619201, 31660579, 7705943, 9207791, 9315632		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28775129, 37664946	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	31638167		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis 2	Neurofibromatosis	Pubtator	36917021	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	26993773	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	LHGDN	18642369		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	574370		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	BEFREE	20542174		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	16841094, 17172848, 17255960, 17568799, 17673550, 18642369, 18728396, 21639936, 28207006		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	UNIPROT_DG	16841094		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nevus, Keratinocytic, Nonepidermolytic	Nonepidermolytic Keratinocytic Nevus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17949785, 18559515, 21152424, 23867472, 28838400, 29110841, 29991799, 30267839, 30565694		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18678919		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29652901		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	18000903		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	29351036		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral Submucous Fibrosis	BEFREE	26465941		★☆☆☆☆ Found in Text Mining only
Organoid Nevus Phakomatosis	Epidermal nevus syndrome	BEFREE	20542174		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27701424	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	18000903		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	10053006, 11055896, 11526491, 12833394, 15772091, 17172848, 18000903, 19088846, 19789973, 19898608, 20453470, 21910223, 22145492, 23014564, 23726269, 25119967, 27214123, 28230213, 29063142, 29080836, 30048571, 30086379		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	17507011, 19327639, 19898608, 40596606	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	19637253, 22102535, 24863959		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	15625620		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglophonic dwarfism	Pubtator	15625620	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29104492		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11906172, 26018508, 27022737, 29045509		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29045509	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22531302, 32596330, 32668414	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26823787, 29074453	Associate	★☆☆☆☆ Found in Text Mining only
Papillary renal cell carcinoma, sporadic	Papillary renal carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	12237885, 21504907		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	19287463, 25056374, 30838648	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	24390213		★☆☆☆☆ Found in Text Mining only
Parathyroid Gland Adenocarcinoma	Parathyroid Gland Adenocarcinoma	BEFREE	30362515		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	11731410, 15514005, 23696246		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	11731410		★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	BEFREE	11596961, 8755573, 9342602		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	24390213		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	28468611		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	ORPHANET_DG	10914960		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	BEFREE	11743367, 9580776		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31843397		★☆☆☆☆ Found in Text Mining only
Posterior fossa compression syndrome	Brain stem compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	11290605		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11170144, 19377444, 20957671, 21116115, 25352177, 31266816		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	15655558	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19377444, 20957671, 21116115		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19377444, 26887047, 27701467, 28657667	Associate	★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	27214123		★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	20542174		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	30036598		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	18678919		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	28779179		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	BEFREE	30036598		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21632885, 22203473		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	26278805, 26778714, 29396293, 30887605, 31278255, 32208524, 33368857, 33397444, 34050578, 34782263, 35563543, 37558130, 37640571, 38320909	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22422829, 25997541, 26274747		★☆☆☆☆ Found in Text Mining only
Retrognathia	Retrognathia	Pubtator	31169147	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24467821		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29540697		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	BEFREE	17561467		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	27370225		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	26289989		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen syndrome	Saethre-Chotzen Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	Pubtator	34308104	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Synovial	Synovial sarcoma	Pubtator	23664540	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29691279		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	28434888	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	21639936, 37192015	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	15772091, 16778799, 17172848, 17255960, 17392824, 17568799, 17585316, 17673550, 18503601, 18728396, 19298285, 19729838, 19845664, 22188534, 24626198, 28627087, 29485181		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	UNIPROT_DG	15772091		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	LHGDN	16778799, 17392824, 17585316, 18503601		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic keratosis	Seborrheic keratosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures	Seizures	Pubtator	30160829	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	CTD_human_DG	19855393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	Pubtator	23784824	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	18818193		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	31690697		★☆☆☆☆ Found in Text Mining only
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	Achondroplasia With Developmental Delay And Acanthosis Nigricans	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	19468049		★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	10053006, 11055896, 11526491, 12833394, 15772091, 17172848, 19088846, 19789973, 19898608, 20453470, 21910223, 22145492, 23014564, 23726269, 25119967, 27214123, 28230213, 29063142, 29080836, 30048571, 30086379		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS	SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Diseases	Skin disease	Pubtator	17673550, 19377444, 21639936, 8880573	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	17673550		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17172848, 17585316, 19298285, 24626198, 31830366		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	17568799	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	27845189, 29110841		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29110841, 36927233	Associate	★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	31773305		★☆☆☆☆ Found in Text Mining only
Sotos Syndrome	Sotos syndrome	Pubtator	24670087	Associate	★☆☆☆☆ Found in Text Mining only
Spermatocytic seminoma	Spermatocytic Seminoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11605053, 19298285, 19729838, 21577207, 24452392, 26319365, 26711175, 27845189, 29270870		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26487184		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24667986, 25056374, 25980437, 30933315, 31093971, 33626078, 36165723, 37666053	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26465941, 26711175, 29700339	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23661334, 23786770, 24323028, 26486077, 27581340, 31228215		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	26711175		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24667986, 26711175, 27053219, 30343534, 30933315		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	28377483		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17697126		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28056982, 36484990	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	37956738	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31203572		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	9843049		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	BEFREE	9843049		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	31662319		★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	GENOMICS_ENGLAND_DG	16841094		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15514005, 18528286		★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	BEFREE	9600744		★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11314002		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	UNIPROT_DG	19855393		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	19855393	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	BEFREE	19855393		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	19855393	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric Dysplasia	Thanatophoric Dysplasia	BEFREE	10073901, 10360402, 10545953, 11015576, 11157491, 11241532, 11745189, 11904459, 12297284, 12461689, 12929929, 14671399, 14751560, 16222682, 16476447, 16841094, 17320202, 17507011, 17509076, 17561467, 18504386, 18794123, 18923003, 19215249, 19449430, 19622626, 19855393, 19898608, 20034074, 20922792, 21204232, 21264819, 22634226, 23014564, 23649205, 24324705, 25119967, 27028100, 27987249, 28249712, 28679403, 29040558, 29360984, 29542187, 7773297, 8640234, 8723102, 8755573, 8845844, 9055906, 9069288, 9158142, 9207791, 9302269, 9438390, 9582336, 9677066, 9790257, 9799297, 9887329		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric Dysplasia	Thanatophoric dysplasia	Pubtator	11395371, 11851976, 11904459, 12929929, 16778799, 16841094, 17320202, 17507011, 19855393, 19898608, 21264819, 21639936, 23408600, 24616001, 25800480, 26244699, 28249712, 28679403, 29170271, 32347827, 33340121, 33520059, 9582336, 9790257	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric Dysplasia	Thanatophoric Dysplasia	LHGDN	12624096, 12833394, 17375526, 18923003		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric Dysplasia	Thanatophoric Dysplasia	CTD_human_DG	19855393		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia type 1	Thanatophoric Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thanatophoric dysplasia type 2	Thanatophoric dysplasia	Pubtator	10053006, 11055896, 12368206, 24075385, 25800480	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thanatophoric dysplasia type 2	Thanatophoric Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thanatophoric Dysplasia Type I	Thanatophoric dysplasia	Pubtator	10053006, 10890204, 11055896, 17509076, 18794123, 19761767, 22203473, 23972473, 24075385, 25671245, 28254233, 33368972, 39778871, 9582336, 9790257	Associate	★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	10377013, 10918587, 11055896, 12624096, 18485666, 18577465, 22843502, 23972473, 24075385, 27506979, 29242050, 29458880, 8754806		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	UNIPROT_DG	12297284, 7773297, 8754806		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	CLINVAR_DG	16912704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	GENOMICS_ENGLAND_DG	7647778		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	BEFREE	10053006, 10073901, 10360402, 10377013, 10545953, 11015576, 11055896, 11157491, 11241532, 11745189, 11754059, 11904459, 12297284, 12461689, 12833394, 12929929, 14671399, 14751560, 16222682, 16476447, 16841094, 17320202, 17507011, 17509076, 17561467, 18504386, 18794123, 18923003, 19215249, 19449430, 19622626, 19855393, 19898608, 20034074, 20922792, 21204232, 21264819, 22634226, 23014564, 23551494, 23649205, 24324705, 25119967, 27028100, 27214123, 27450648, 27987249, 28249712, 28254233, 28679403, 29040558, 29360984, 29542187, 31476288, 7773297, 8640234, 8723102, 8755573, 8845844, 8858131, 9055906, 9069288, 9158142, 9207791, 9302269, 9438390, 9582336, 9677066, 9790257, 9799297, 9843049, 9887329		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	UNIPROT_DG	10360402, 10671061, 7773297, 8589699, 8845844, 9790257		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	CLINVAR_DG	16912704, 17509076, 7647778		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	GENOMICS_ENGLAND_DG	7647778, 8078586, 8841188		★☆☆☆☆ Found in Text Mining only
THANATOPHORIC DYSPLASIA, TYPE I (disorder)	Thanatophoric Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	19789973	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	26415661	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	28525363	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	19404844, 19722178, 19955487, 27870574, 28207006, 29193225, 31085058		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24168007		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27231203		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27231203, 31987043	Associate	★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	11395371, 16278395, 16470587, 17085196, 27530957		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	25223521, 28855393, 30352907, 36906071	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	11395371, 12910517, 15026322, 16384584, 16778799, 17384684, 17668422, 17673550, 18231634, 18794123, 19454613, 19855393, 20187926, 20348956, 21072204, 21264819, 22724020, 22820081, 22873290, 23108201, 23650517, 23778527, 24250280, 24357085, 24466111, 24846059, 24933362, 25223521, 25657201, 25997541, 26151138, 26244699, 26374428, 26901314, 27091807, 27356691, 27586786, 27611947, 27699256, 27835695, 28320388, 28388658, 28583311, 28775129, 29226855, 29463565, 30064409, 31233191, 31369573, 31393349, 31665050, 32012118, 32091435, 32448160, 32596330, 32721083, 32988402, 32989154, 33243261, 33323389, 33895087, 34114376, 34160364, 34294892, 34484235, 34906411, 35035776, 35151844, 35501832, 35608106, 35958598, 35991125, 36462464, 36495164, 36675289, 37105962, 37151354, 37380559, 37477495, 37980528, 40043910, 40594127, 40603329	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urologic Neoplasms	Urologic neoplasm	Pubtator	22203473, 22873290, 26397152, 34129823, 36082904, 36675289	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	17172848, 17568799, 17668422, 19621447, 21119661, 21533174, 21547910, 22203473, 22285006, 22873290, 23107319, 23142690, 24360661, 24846059, 27271022, 27356691, 27932416, 29226855, 30064409, 30887605, 30952872, 31030123, 31278255		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	15869706	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	15772091		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	11904459, 15869706, 18794123, 25669975, 27154171, 30616520, 32951893, 38555994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	36232829	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28108755		★☆☆☆☆ Found in Text Mining only
Verrucous epidermal nevus	Verrucous Epidermal Nevus	BEFREE	17441958, 24346875		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	21521775		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	31054897, 33473164	Associate	★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	11152656, 11157491, 9215768		★☆☆☆☆ Found in Text Mining only