FGFR2 (fibroblast growth factor receptor 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2263
• Gene name: Fibroblast growth factor receptor 2
• Gene symbol: FGFR2
• Synonyms (NCBI Gene): BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25
• Chromosome: 10
• Chromosome location: 10q26.13
• Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities an

SNPs Show/Hide all (86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3135755	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs77543610	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs79184941	G>A,C	Pathogenic, likely-pathogenic, benign-likely-benign	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs121913474	A>G	Uncertain-significance, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121913475	T>C	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121913476	A>C,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121913477	G>C,T	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121913478	T>C	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918487	C>A,G,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918488	A>C,G,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918489	A>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918490	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918491	C>T	Pathogenic	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs121918492	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918493	T>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918494	G>C	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918495	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918496	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918497	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918498	CG>AA	Likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918499	C>A,G	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918500	T>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918501	A>C,G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918502	G>C	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918503	GTC>-	Pathogenic	Inframe deletion, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs121918504	C>A,T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918505	A>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs121918506	T>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918507	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918508	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918509	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121918510	T>G	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs281865420	GCG>AGA	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387906676	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387906677	A>C	Pathogenic	Missense variant, coding sequence variant, initiator codon variant, non coding transcript variant, intron variant
rs387906678	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs387907372	GGC>AAG	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs776587763	C>A,T	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs777169135	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs794727163	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs879253718	ACCACT>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant, non coding transcript variant, 5 prime UTR variant
rs879253719	C>T	Pathogenic	Intron variant, splice acceptor variant
rs879253720	TCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe indel
rs879253721	T>C	Pathogenic	Intron variant
rs886037837	CGTGCTTGATCCACTGGA>-	Pathogenic	Coding sequence variant, intron variant, inframe indel, non coding transcript variant, 5 prime UTR variant
rs1057519036	A>C	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519037	GC>AA,TA	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519038	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519039	C>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519040	T>C	Pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519041	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1057519042	T>C	Pathogenic-likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519043	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519044	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519045	T>G	Drug-response, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519046	TT>AG	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519047	T>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519791	G>C	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1057519795	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519796	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519797	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519798	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519799	C>A,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519800	C>A,G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519854	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519900	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057519901	T>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520027	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520028	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1057520029	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057520044	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796413	A>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1064796452	T>C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs1358919643	C>A,T	Pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1434545235	T>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs1554907337	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554914180	GT>TC	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554917471	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1554927408	C>T	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1554928884	T>C	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1554928978	CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC>-	Likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, splice acceptor variant, coding sequence variant
rs1554930637	AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC>-	Pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, inframe deletion, coding sequence variant
rs1564875577	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1564919048	C>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1589722765	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1589828632	CGGCGGCCTA>GGT	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, 5 prime UTR variant, intron variant

miRNA Show/Hide all (106)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006275	hsa-miR-19b-1-5p	Luciferase reporter assay, Western blot	22197821
MIRT006678	hsa-miR-125b-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	21412257
MIRT023494	hsa-miR-1-3p	Microarray	18668037
MIRT044917	hsa-miR-186-5p	CLASH	23622248
MIRT734592	hsa-miR-223-3p	Immunohistochemistry (IHC), In situ hybridization	31533233
MIRT734595	hsa-miR-431-3p	Immunohistochemistry (IHC), In situ hybridization	31533233
MIRT996063	hsa-miR-1302	CLIP-seq
MIRT996064	hsa-miR-3122	CLIP-seq
MIRT996065	hsa-miR-33a	CLIP-seq
MIRT996066	hsa-miR-33b	CLIP-seq
MIRT996067	hsa-miR-3913-5p	CLIP-seq
MIRT996068	hsa-miR-4298	CLIP-seq
MIRT996069	hsa-miR-103a	CLIP-seq
MIRT996070	hsa-miR-107	CLIP-seq
MIRT996071	hsa-miR-15a	CLIP-seq
MIRT996072	hsa-miR-15b	CLIP-seq
MIRT996073	hsa-miR-16	CLIP-seq
MIRT996074	hsa-miR-195	CLIP-seq
MIRT996075	hsa-miR-2277-3p	CLIP-seq
MIRT996076	hsa-miR-3660	CLIP-seq
MIRT996077	hsa-miR-424	CLIP-seq
MIRT996078	hsa-miR-4310	CLIP-seq
MIRT996079	hsa-miR-4526	CLIP-seq
MIRT996080	hsa-miR-497	CLIP-seq
MIRT996081	hsa-miR-2110	CLIP-seq
MIRT996082	hsa-miR-3144-5p	CLIP-seq
MIRT996083	hsa-miR-3150a-3p	CLIP-seq
MIRT996084	hsa-miR-3166	CLIP-seq
MIRT996085	hsa-miR-3191	CLIP-seq
MIRT996086	hsa-miR-4260	CLIP-seq
MIRT996087	hsa-miR-4271	CLIP-seq
MIRT996088	hsa-miR-4514	CLIP-seq
MIRT996089	hsa-miR-4652-5p	CLIP-seq
MIRT996090	hsa-miR-4667-5p	CLIP-seq
MIRT996091	hsa-miR-4692	CLIP-seq
MIRT996092	hsa-miR-4699-5p	CLIP-seq
MIRT996093	hsa-miR-4700-5p	CLIP-seq
MIRT996094	hsa-miR-4725-3p	CLIP-seq
MIRT996095	hsa-miR-106a	CLIP-seq
MIRT996096	hsa-miR-106b	CLIP-seq
MIRT996097	hsa-miR-1234	CLIP-seq
MIRT996098	hsa-miR-1299	CLIP-seq
MIRT996099	hsa-miR-150	CLIP-seq
MIRT996100	hsa-miR-17	CLIP-seq
MIRT996101	hsa-miR-197	CLIP-seq
MIRT996102	hsa-miR-20a	CLIP-seq
MIRT996103	hsa-miR-20b	CLIP-seq
MIRT996104	hsa-miR-302a	CLIP-seq
MIRT996105	hsa-miR-302b	CLIP-seq
MIRT996106	hsa-miR-302c	CLIP-seq
MIRT996107	hsa-miR-302d	CLIP-seq
MIRT996108	hsa-miR-302e	CLIP-seq
MIRT996109	hsa-miR-3187-3p	CLIP-seq
MIRT996110	hsa-miR-3663-5p	CLIP-seq
MIRT996111	hsa-miR-372	CLIP-seq
MIRT996112	hsa-miR-373	CLIP-seq
MIRT996113	hsa-miR-4252	CLIP-seq
MIRT996114	hsa-miR-433	CLIP-seq
MIRT996115	hsa-miR-4435	CLIP-seq
MIRT996116	hsa-miR-4438	CLIP-seq
MIRT996117	hsa-miR-4454	CLIP-seq
MIRT996118	hsa-miR-4527	CLIP-seq
MIRT996119	hsa-miR-4701-5p	CLIP-seq
MIRT996120	hsa-miR-4716-5p	CLIP-seq
MIRT996121	hsa-miR-4731-5p	CLIP-seq
MIRT996122	hsa-miR-4755-3p	CLIP-seq
MIRT996123	hsa-miR-4763-5p	CLIP-seq
MIRT996124	hsa-miR-4781-3p	CLIP-seq
MIRT996125	hsa-miR-5095	CLIP-seq
MIRT996126	hsa-miR-5096	CLIP-seq
MIRT996127	hsa-miR-512-3p	CLIP-seq
MIRT996128	hsa-miR-519d	CLIP-seq
MIRT996129	hsa-miR-520a-3p	CLIP-seq
MIRT996130	hsa-miR-520b	CLIP-seq
MIRT996131	hsa-miR-520c-3p	CLIP-seq
MIRT996132	hsa-miR-520d-3p	CLIP-seq
MIRT996133	hsa-miR-520e	CLIP-seq
MIRT996134	hsa-miR-520g	CLIP-seq
MIRT996135	hsa-miR-520h	CLIP-seq
MIRT996136	hsa-miR-548s	CLIP-seq
MIRT996137	hsa-miR-588	CLIP-seq
MIRT996138	hsa-miR-875-3p	CLIP-seq
MIRT996139	hsa-miR-93	CLIP-seq
MIRT996069	hsa-miR-103a	CLIP-seq
MIRT996070	hsa-miR-107	CLIP-seq
MIRT996071	hsa-miR-15a	CLIP-seq
MIRT996072	hsa-miR-15b	CLIP-seq
MIRT996073	hsa-miR-16	CLIP-seq
MIRT996074	hsa-miR-195	CLIP-seq
MIRT996075	hsa-miR-2277-3p	CLIP-seq
MIRT996077	hsa-miR-424	CLIP-seq
MIRT996078	hsa-miR-4310	CLIP-seq
MIRT2229443	hsa-miR-4719	CLIP-seq
MIRT996080	hsa-miR-497	CLIP-seq
MIRT2680987	hsa-miR-1281	CLIP-seq
MIRT2680988	hsa-miR-1297	CLIP-seq
MIRT2680989	hsa-miR-26a	CLIP-seq
MIRT2680990	hsa-miR-26b	CLIP-seq
MIRT2680991	hsa-miR-4465	CLIP-seq
MIRT2680992	hsa-miR-4707-5p	CLIP-seq
MIRT2680993	hsa-miR-671-3p	CLIP-seq

Gene ontology (GO) Show/Hide all (153)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	ISS
GO:0001657	Process	Ureteric bud development	ISS
GO:0001701	Process	In utero embryonic development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003416	Process	Endochondral bone growth	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	NAS	1697263
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	IDA	8663044, 15629145
GO:0005007	Function	Fibroblast growth factor receptor activity	IEA
GO:0005007	Function	Fibroblast growth factor receptor activity	IGI	10830168
GO:0005007	Function	Fibroblast growth factor receptor activity	NAS	1400433, 1697263, 8676562
GO:0005515	Function	Protein binding	IPI	1309608, 9700203, 10618369, 10830168, 11069186, 11390973, 12591959, 22726438, 23597563, 24440983, 25241761, 26267536, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	16597614, 17471512
GO:0005737	Component	Cytoplasm	IDA	16597614, 17471512
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15629145, 16844695
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	17471512
GO:0006915	Process	Apoptotic process	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007409	Process	Axonogenesis	ISS
GO:0008201	Function	Heparin binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	8663044
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	15629145
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IBA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IDA	8663044, 15629145
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	IPI	10830168
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0009791	Process	Post-embryonic development	ISS
GO:0009880	Process	Embryonic pattern specification	ISS
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009986	Component	Cell surface	IDA	17959718
GO:0009986	Component	Cell surface	IDA	16597614
GO:0009986	Component	Cell surface	IEA
GO:0010518	Process	Positive regulation of phospholipase activity	IMP	16844695
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IMP	21412257
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1697263, 8676562
GO:0016301	Function	Kinase activity	IEA
GO:0016331	Process	Morphogenesis of embryonic epithelium	ISS
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	8386828, 11923311, 19224135
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	15629145, 16844695
GO:0021769	Process	Orbitofrontal cortex development	ISS
GO:0021847	Process	Ventricular zone neuroblast division	ISS
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0022612	Process	Gland morphogenesis	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030282	Process	Bone mineralization	ISS
GO:0030324	Process	Lung development	ISS
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0030901	Process	Midbrain development	ISS
GO:0030916	Process	Otic vesicle formation	ISS
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032808	Process	Lacrimal gland development	ISS
GO:0033688	Process	Regulation of osteoblast proliferation	IEA
GO:0033688	Process	Regulation of osteoblast proliferation	TAS	15190072
GO:0035265	Process	Organ growth	ISS
GO:0035602	Process	Fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell	ISS
GO:0035603	Process	Fibroblast growth factor receptor signaling pathway involved in hemopoiesis	ISS
GO:0035604	Process	Fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow	ISS
GO:0035607	Process	Fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	ISS
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042476	Process	Odontogenesis	ISS
GO:0042802	Function	Identical protein binding	IPI	9700203, 19060208
GO:0042803	Function	Protein homodimerization activity	IPI	16844695
GO:0043009	Process	Chordate embryonic development	IEA
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	15629145
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0045165	Process	Cell fate commitment	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045667	Process	Regulation of osteoblast differentiation	TAS	15190072
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046777	Process	Protein autophosphorylation	IDA	15629145
GO:0048286	Process	Lung alveolus development	ISS
GO:0048333	Process	Mesodermal cell differentiation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	ISS
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048562	Process	Embryonic organ morphogenesis	ISS
GO:0048565	Process	Digestive tract development	ISS
GO:0048568	Process	Embryonic organ development	ISS
GO:0048608	Process	Reproductive structure development	ISS
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	7874170, 7987400
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	TAS	15190072
GO:0048730	Process	Epidermis morphogenesis	ISS
GO:0048755	Process	Branching morphogenesis of a nerve	ISS
GO:0048762	Process	Mesenchymal cell differentiation	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0051150	Process	Regulation of smooth muscle cell differentiation	ISS
GO:0051781	Process	Positive regulation of cell division	ISS
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	ISS
GO:0060045	Process	Positive regulation of cardiac muscle cell proliferation	ISS
GO:0060076	Component	Excitatory synapse	ISS
GO:0060174	Process	Limb bud formation	ISS
GO:0060348	Process	Bone development	ISS
GO:0060349	Process	Bone morphogenesis	ISS
GO:0060442	Process	Branching involved in prostate gland morphogenesis	ISS
GO:0060445	Process	Branching involved in salivary gland morphogenesis	ISS
GO:0060449	Process	Bud elongation involved in lung branching	ISS
GO:0060463	Process	Lung lobe morphogenesis	ISS
GO:0060484	Process	Lung-associated mesenchyme development	ISS
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	ISS
GO:0060512	Process	Prostate gland morphogenesis	ISS
GO:0060523	Process	Prostate epithelial cord elongation	ISS
GO:0060527	Process	Prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	ISS
GO:0060529	Process	Squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	ISS
GO:0060595	Process	Fibroblast growth factor receptor signaling pathway involved in mammary gland specification	ISS
GO:0060601	Process	Lateral sprouting from an epithelium	ISS
GO:0060615	Process	Mammary gland bud formation	ISS
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	ISS
GO:0060667	Process	Branch elongation involved in salivary gland morphogenesis	ISS
GO:0060670	Process	Branching involved in labyrinthine layer morphogenesis	ISS
GO:0060688	Process	Regulation of morphogenesis of a branching structure	ISS
GO:0060915	Process	Mesenchymal cell differentiation involved in lung development	ISS
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	ISS
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	ISS
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA

Other IDs

• MIM: 176943
• HGNC: 3689
• e!Ensembl: ENSG00000066468

Protein

• UniProt ID: P21802
• Protein name: Fibroblast growth factor receptor 2 (FGFR-2) (EC 2.7.10.1) (K-sam) (KGFR) (Keratinocyte growth factor receptor) (CD antigen CD332)
• 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, migration and apoptosis, and in the regulation of embryonic developm
• PDB: 1DJS , 1E0O , 1EV2 , 1GJO , 1II4 , 1IIL , 1NUN , 1OEC , 1WVZ , 2FDB , 2PSQ , 2PVF , 2PVY , 2PWL , 2PY3 , 2PZ5 , 2PZP , 2PZR , 2Q0B , 3B2T , 3CAF , 3CLY , 3CU1 , 3DAR , 3EUU , 3OJ2 , 3OJM , 3RI1 , 4J23 , 4J95 , 4J96 , 4J97 , 4J98 , 4J99 , 4WV1 , 5EG3 , 5UGL , 5UGX , 5UHN , 5UI0 , 6AGX , 6LVK , 6LVL , 6V6Q , 7KIA , 7KIE , 7OZY , 8E1X , 8H75 , 8STG , 8SWE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	162 → 248	Immunoglobulin I-set domain	Domain
  PF07679	I-set	260 → 359	Immunoglobulin I-set domain	Domain
  PF18123	FGFR3_TM	371 → 401	Fibroblast growth factor receptor 3 transmembrane domain	Domain
  PF07714	PK_Tyr_Ser-Thr	481 → 757	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEV
  RCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYF
  MVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCP
  AGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSI
  NHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSK
  YGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFEDAGEYTCLAGNSIGISFHSAWLTVL
  PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTK
  RIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDK
  LTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKM
  IGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTF
  KDLVSCTYQLARGMEYLASQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKT
  TNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGH
  RMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQYS
  PSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT

• Sequence length: 821

Pathways

KEGG Pathway	Reactome Pathway
EGFR tyrosine kinase inhibitor resistance	PI3K Cascade
MAPK signaling pathway	PIP3 activates AKT signaling
Ras signaling pathway	FGFR2c ligand binding and activation
Rap1 signaling pathway	FGFR2b ligand binding and activation
Calcium signaling pathway	Signaling by FGFR2 amplification mutants
Endocytosis	Activated point mutants of FGFR2
PI3K-Akt signaling pathway	Constitutive Signaling by Aberrant PI3K in Cancer
Signaling pathways regulating pluripotency of stem cells	Phospholipase C-mediated cascade; FGFR2
Regulation of actin cytoskeleton	PI-3K cascade:FGFR2
Pathways in cancer	SHC-mediated cascade:FGFR2
Prostate cancer	FRS-mediated FGFR2 signaling
Gastric cancer	Negative regulation of FGFR2 signaling
Central carbon metabolism in cancer	Signaling by FGFR2 in disease
	RAF/MAP kinase cascade
	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
	Signaling by FGFR2 fusions

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 Show/Hide Causal Diseases (35)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acrocephalosyndactyly type I	Pathogenic; Likely pathogenic	rs121918490, rs1057519041, rs121918491, rs79184941, rs77543610, rs121918498, rs879253721, rs1434545235, rs387907372	RCV002246353 RCV002249988 RCV002247335 RCV000014191 RCV000014193 RCV000014201 RCV001254178 RCV005603635 RCV000049281	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adenoid cystic carcinoma	Likely pathogenic; Pathogenic	rs121913474	RCV004813093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Likely pathogenic; Pathogenic	rs121918487, rs121918488, rs77543610, rs121918502	RCV001196204 RCV000014180 RCV000014183 RCV001197223 RCV000014209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aural atresia, congenital	Pathogenic	rs121918499	RCV002254264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Beare-Stevenson cutis gyrata syndrome	Likely pathogenic; Pathogenic	rs121913478, rs121913477, rs121913474, rs1554930637	RCV000014198 RCV000014200 RCV005603622 RCV000022731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bent bone dysplasia syndrome 1	Pathogenic; Likely pathogenic	rs387906677, rs387906678, rs1434545235	RCV000022734 RCV000022735 RCV002291280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral sensorineural hearing impairment	Likely pathogenic	rs2133823028	RCV001730847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs1847174277	RCV001293828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Common craniosynostosis syndromes	Pathogenic; Likely pathogenic	rs121918491, rs121918496, rs1057519038, rs1057519037	RCV005887496 RCV006272127 RCV006443341 RCV006273020	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniofacial-skeletal-dermatologic dysplasia	Pathogenic	rs121918499	RCV000014218	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis syndrome	Likely pathogenic; Pathogenic	rs121918487, rs121918491	RCV001730471 RCV000192353	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis, nonclassifiable autosomal dominant	Pathogenic	rs121918491	RCV000014185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis, nonspecific	Likely pathogenic	rs1057519046	RCV000415476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostosis, nonsyndromic unicoronal	Pathogenic	rs121918504	RCV000014212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Crouzon syndrome	Pathogenic; Likely pathogenic	rs776587763, rs121918487, rs121918489, rs121918490, rs121918488, rs121918491, rs121918492, rs121918493, rs121918494, rs121918496, rs121918497, rs121918500, rs121918501, rs121918502, rs121918504, rs121918505, rs121918507, rs879253721, rs1057519045, rs1057519044, rs1057519043, rs1057519042, rs1057519040, rs1057519039, rs1057519038, rs1057519036, rs387906676, rs1434545235, rs1564919048, rs1850299732	RCV000844883 RCV000014173 RCV000014175 RCV000014176 RCV000014177 RCV000014181 RCV000014184 RCV000014188 RCV000014189 RCV000014190 RCV000014195 RCV000014196 RCV000014204 RCV000014205 RCV000014206 RCV003313920 RCV000856813 RCV000408850 RCV000014220 RCV000014226 RCV000415507 RCV000856727 RCV000415513 RCV000415494 RCV000415483 RCV000415502 RCV000415506 RCV000415488 RCV000415486 RCV000022732 RCV003128407 RCV000856806 RCV001263201	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectrodactyly	Likely pathogenic	rs1850314485	RCV001089549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs79184941, rs121913478	RCV000014192 RCV000014199	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial scaphocephaly syndrome, McGillivray type	Likely pathogenic; Pathogenic	rs121918507, rs121918508	RCV000014221 RCV004767007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGFR2-related craniosynostosis	Pathogenic; Likely pathogenic	rs121918510, rs121918490, rs2134256250, rs879253719, rs2134260022, rs1057519039, rs2134254345, rs1274989878, rs1057519041, rs1589722765, rs2134253566, rs2134253609, rs121918501, rs2540049261, rs776587763, rs121918487, rs121918489, rs121918488, rs121918491, rs121918492, rs121918493, rs121918494, rs79184941, rs77543610, rs121918495, rs121918496, rs121918497, rs121913478, rs121913477, rs121918500, rs121918502, rs121918504, rs121918505, rs121918499, rs121918506, rs121918507, rs121918508, rs879253721, rs2133825396, rs2134253669, rs2540045968, rs2540122419, rs2133944245, rs1057519044, rs1057519043, rs1057519038, rs1057519036, rs387906676, rs1554928884, rs1434545235, rs1554927408, rs1554930790, rs1564919048, rs1057519037, rs1845559552, rs1850289942	RCV001370090 RCV001377880 RCV001390280 RCV002034562 RCV001864146 RCV001864147 RCV001915790 RCV001946152 RCV003753216 RCV003101535 RCV003058266 RCV003062302 RCV002796351 RCV003048177 RCV000557313 RCV000547490 RCV001214882 RCV000655419 RCV000534888 RCV000655416 RCV000686210 RCV001851846 RCV000798719 RCV000655421 RCV000552015 RCV000532721 RCV001037961 RCV000535651 RCV001217538 RCV000549100 RCV001382546 RCV002513037 RCV000537718 RCV000528973 RCV001851847 RCV000690962 RCV000694780 RCV000655418 RCV001851848 RCV005089251 RCV002513038 RCV001382547 RCV002513039 RCV003588491 RCV003588492 RCV003588493 RCV003753362 RCV003754060 RCV001865307 RCV000815502 RCV000560038 RCV001861462 RCV001377881 RCV001381651 RCV002524678 RCV000655413 RCV002513173 RCV001232531 RCV000531359 RCV000525216 RCV000655417 RCV000655420 RCV000695392 RCV000695897 RCV000701381 RCV000818805 RCV001035610 RCV001049467 RCV001224644	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGFR2-related disorder	Pathogenic; Likely pathogenic	rs2134260022, rs2134254345, rs2134253609, rs776587763, rs121918491, rs121918492, rs79184941, rs77543610, rs121918497, rs121913478, rs121918499, rs121918501, rs121918502, rs121918506, rs2540116264, rs121918487, rs1057519038, rs387906678, rs1589722765	RCV004728861 RCV004538607 RCV004529197 RCV004737395 RCV002280092 RCV005249989 RCV004532334 RCV004532335 RCV005867753 RCV004532336 RCV004532337 RCV004724741 RCV004737152 RCV004532338 RCV004542695 RCV004737463 RCV004544729 RCV004528130 RCV004528313	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGFR2-related syndromic and non-syndromic craniosynostoses	Pathogenic	rs121918488	RCV001270790	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Pathogenic	rs121918505	RCV002508123	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs121918491	RCV005887495	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jackson-Weiss syndrome	Pathogenic	rs121918488, rs121918492, rs121918497, rs121918487	RCV000014179 RCV000014182 RCV000014187 RCV000014197 RCV000415490 RCV000415499	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Levy-Hollister syndrome	Likely pathogenic; Pathogenic	rs2133975330, rs121918508, rs879253720, rs121918509, rs1554907337, rs1554917471, rs1847510893	RCV002291169 RCV000014222 RCV000014223 RCV000014224 RCV000659649 RCV000659648 RCV001250712	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liver cancer	Pathogenic	rs79184941	RCV006253543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meier-Gorlin syndrome 1	Likely pathogenic; Pathogenic	rs121918494	RCV004813038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic; Likely pathogenic	rs79184941, rs121913474, rs1057519043	RCV005229786 RCV006273731 RCV006273996	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pemigatinib resistance	Likely pathogenic	rs1057519045	RCV000786040	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pfeiffer syndrome	Pathogenic; Likely pathogenic	rs2134253566, rs886037837, rs776587763, rs121918487, rs121918488, rs121918492, rs121918494, rs79184941, rs77543610, rs121918495, rs121918497, rs121918499, rs121918502, rs121918503, rs121918505, rs879253719, rs1589828632, rs121918506, rs121918507, rs879253721, rs121918510, rs2133825396, rs2539419195, rs1057519047, rs1057519037, rs1554928884	RCV005002018 RCV000240846 RCV000415498 RCV000014174 RCV000014178 RCV000415484 RCV003313919 RCV001823713 RCV004527288 RCV005859461 RCV000014194 RCV000415509 RCV000014203 RCV000415503 RCV000014211 RCV000014213 RCV000014215 RCV000014216 RCV000014217 RCV000014219 RCV003988821 RCV000014225 RCV000014227 RCV004698884 RCV003989002 RCV000415480 RCV000415495 RCV003155177 RCV000415501 RCV000415475 RCV004796222	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer syndrome type 3	Pathogenic	rs121918502	RCV000014208	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pfeiffer syndrome variant	Pathogenic	rs281865420	RCV000014202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen syndrome	Pathogenic	rs879253718	RCV000014207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scaphocephaly and axenfeld-rieger anomaly	Pathogenic	rs121918491	RCV000014186	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sialoblastoma	Likely pathogenic; Pathogenic	rs121913474	RCV006254007	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (99)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSIS	—	CTD	9605588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	9605588, 10633130	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME PHENOTYPE	—	CTD	9605588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALY OR DISORDER OF STEROIDOGENESIS	—	Orphanet	20301592	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	10633130,15793702,9605588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APERT SYNDROME	—	ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet	15282208, 20301628, 23593218, 7719344, 9002682, 9973282, 7668257, 8651276, 9217234, 9452027	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40050429, 40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	32595297	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant syndrome including deafness	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	30410027	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY TRACT NEOPLASMS	—	CTD	40307985	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER	—	GWAS catalog	30323354	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	17529967, 17529973, 19330030, 20453838, 20872241, 21263130, 22951594, 23354978, 23535729, 24143190, 24493630, 25751625, 25956309, 27354352, 29059683, 31757997, 32139696, 32514122, 32808324, 32887889, 34290314, 34594039, 35267517, 36819030, 37340002, 38538	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	17529967, 17529973, 19330030, 20453838, 20872241, 21060860, 21263130, 22951594, 23354978, 23535729, 23544012, 24143190, 24493630, 25751625, 25956309, 27197191, 27354352, 29059683, 31757997, 32139696, 32514122, 32808324, 32887889, 34290314, 34594039, 35267	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	17529967, 17529973, 18438407, 37980453	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	27197191, 32887889, 34290314, 35729236, 37106081, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	39077220	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	26258846, 36441501, 37289037, 39258521	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	17963255	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	17963255, 29526646	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	10631169, 16465081, 18082115	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL DYSOSTOSIS	—	CTD, Disgenet CTD, Disgenet	9152842	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL DYSOSTOSIS TYPE 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	16465081, 8957519, 9605588	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	7719345,7719344,8696350,22387015,7987400	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LUPUS ERYTHEMATOSUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON	—	CTD, Disgenet, ClinGen CTD, Disgenet, ClinGen	17449949, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME	—	Orphanet	20301628, 21438135	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL COORDINATION DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	28886342, 37315093, 38172110, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	21936542	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	39919334	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	27197191, 32887889, 34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	28864454, 38741014	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGFR2-realated disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	23263486	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	16465081	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Isolated Coronal Synostosis	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LACRIMOAURICULODENTODIGITAL SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	16501574	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LACRIMOAURICULODENTODIGITAL SYNDROME 1	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LADD SYNDROME	—	ClinGen, Disgenet	16501574, 17682060, 18056630, 28043400, 30253032, 32715658	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LADD syndrome 1	Uncertain significance	ClinVar ClinVar, Disgenet, GenCC, ClinGen ClinVar, Disgenet, GenCC, ClinGen	27604308, ClinGen report	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	10631169	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	17692400	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL B BREAST CARCINOMA	—	GWAS catalog	38832928	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	27197191, 32887889, 34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar GWAS catalog	34290314, 37340002	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	27197191, 32887889, 34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	17311802	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR SKILLS DISORDERS	—	CTD	16465081	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	27197191, 32887889, 34290314, 36819030, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	27197191, 32887889, 34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	27197191, 32887889, 34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	34290314, 37340002	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	39349682	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFEIFFER SYNDROME TYPE 1	—	Disgenet	20301628, 20301628	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFEIFFER SYNDROME TYPE 2	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	20301628, 20301628	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFEIFFER TYPE ACROCEPHALOSYNDACTYLY	—	CTD, ClinGen	10394936,10731087,10945669,11380927,11556600,11807866,7719333,9150725,9457499,9475591, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	33398198, 37945903, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	27197191, 32887889, 33398198, 34290314, 37340002, 37945903, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN ABNORMALITIES	—	CTD	10631169	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	22533443	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance; Benign	ClinVar GWAS catalog	27197191, 32887889, 34290314, 37340002	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
STOMACH NEOPLASMS	—	CTD	21173787, 21936542, 39919334	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH ABNORMALITIES	—	CTD	10631169	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	38832928	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ 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 Show/Hide Text Mining Associations (691)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	BEFREE	19387476		★☆☆☆☆ Found in Text Mining only
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	10712195, 17525745, 22879958	Associate	★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	10712195		★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrobrachycephaly	Acrobrachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	CLINVAR_DG	10851026		★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	LHGDN	11556600, 15622262, 15829502, 16440883, 17189145, 17251833, 17622301, 18671283		★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	ORPHANET_DG	15282208, 23593218		★☆☆☆☆ Found in Text Mining only
Acrocephalosyndactylia	Acrocephalopolydactyly	CTD_human_DG	17694057, 19186770, 9002682, 9502772		★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11562460, 16391783, 18829480, 21285871, 26933914, 29263244, 31249137, 8440743		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14559809, 18829480		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	18829480, 25035393, 29038531, 30370535		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	23640291		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28972963		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32522271	Associate	★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	22144180		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16188231		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	26011570	Associate	★☆☆☆☆ Found in Text Mining only
Alacrima	Alacrima	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	12116245		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24002438, 24993163		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	30216733, 35689405, 35761436	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	11596960		★☆☆☆☆ Found in Text Mining only
Ankylosis of the elbow joint	Elbow ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22440254, 24077287, 24975163		★☆☆☆☆ Found in Text Mining only
Antley-Bixler syndrome	Antley-Bixler Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome Phenotype	Antley-Bixler Syndrome	CTD_human_DG	9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome with Disordered Steroidogenesis	Antley-Bixler Syndrome	BEFREE	15793702, 16467261		★☆☆☆☆ Found in Text Mining only
Antley-Bixler Syndrome with Disordered Steroidogenesis	Antley-Bixler Syndrome	CTD_human_DG	9605588		★☆☆☆☆ Found in Text Mining only
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	UNIPROT_DG	10633130		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	ORPHANET_DG	10633130, 9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	BEFREE	15793702, 18259105, 21705796, 9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	GENOMICS_ENGLAND_DG	16061565, 16501574, 27604308, 28425981, 8696350, 9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	CTD_human_DG	9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antley-Bixler Syndrome, Autosomal Dominant	Antley-Bixler Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apert syndrome	Apert Syndrome	CLINVAR_DG	10394936, 10406670, 10633130, 11121055, 11390973, 11781872, 14499350, 15975938, 16418739, 18391498, 23348274, 23546041, 24127277, 24489893, 24656465, 26380986, 27683237, 29037998, 7581378, 7719344, 7874170, 8946174, 9521581, 9677057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	BEFREE	10541159, 10712195, 11121055, 11390973, 11596961, 12900791, 15041782, 15282208, 15310757, 15389579, 15840724, 15975938, 16951439, 17243131, 17622301, 18215098, 18242159, 18632557, 18726952, 19186770, 19755431, 21355848, 21928350, 21943124, 22048896, 22105374, 22872262, 22872267, 23495007, 23519026, 23546041, 23593218, 23880303, 23915865, 24489893, 24578066, 24580805, 24817968, 25045033, 25867380, 26613250, 27339175, 28123344, 28650109, 29868125, 30251381, 30321816, 31348830, 7655462, 7668257, 7719344, 8651276, 9279753, 9462761, 9502772, 9700203, 9973282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	UNIPROT_DG	11390973, 11781872, 15190072, 7668257, 7719344, 9002682, 9452027, 9677057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	ORPHANET_DG	15282208, 23593218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	GENOMICS_ENGLAND_DG	16061565, 16501574, 22387015, 27604308, 28425981, 7719344, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	CTD_human_DG	17694057, 19186770, 9002682, 9502772		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert syndrome	Apert Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Apert-Crouzon Disease	Apert-Crouzon Disease	CTD_human_DG	17694057, 19186770, 9002682, 9502772		★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	12186468		★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	32203698	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34079550	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	23263486		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28599074	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	7964981		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	8290551	Associate	★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37733178	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30059965		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30059965		★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	BEFREE	16158432		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31115494		★☆☆☆☆ Found in Text Mining only
Bannayan-Riley-Ruvalcaba Syndrome	Bannayan-Riley-Ruvalcaba Syndrome	CTD_human_DG	9002682		★☆☆☆☆ Found in Text Mining only
Barber Say syndrome	Barber Say Syndrome	BEFREE	21397175, 22585574, 25706251		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29152066		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	25047501		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10386468, 11517011, 24385678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30410027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	GENOMICS_ENGLAND_DG	16501574, 27604308		★☆☆☆☆ Found in Text Mining only
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	ORPHANET_DG	22387015		★☆☆☆☆ Found in Text Mining only
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	UNIPROT_DG	22387015		★☆☆☆☆ Found in Text Mining only
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	BEFREE	24908667, 28595297, 30620790		★☆☆☆☆ Found in Text Mining only
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
BENT BONE DYSPLASIA SYNDROME	Bent Bone Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bernard-Soulier Syndrome	Bernard Soulier Syndrome	BEFREE	21397175, 22585574, 25706251		★☆☆☆☆ Found in Text Mining only
Bile Duct Neoplasms	Bile duct neoplasms	Pubtator	36996081	Stimulate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21036728, 28212293		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	35583261, 35675577, 36008616, 36089135, 37341068	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22404656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10602477, 17145872, 17697126, 24817968, 27669755, 30387298, 31146385		★☆☆☆☆ 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 Developmental	Bone disease	Pubtator	22387015, 27240702, 28595297	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	22387015	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	22404656		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	35616216	Associate	★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	22374580, 23354978		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10604729, 11056689, 11564899, 15561780, 17133345, 17520678, 17529973, 17997823, 18285324, 18326623, 18337450, 18355772, 18437204, 18462018, 18483326, 18575591, 18575892, 18636142, 18829569, 18845558, 18973230, 19028704, 19092773, 19212647, 19223389, 19365863, 19469636, 19487280, 19497954, 19500394, 19536173, 19582883, 19601767, 19617217, 19789366, 19861516, 20056625, 20299982, 20300826, 20348248, 20364400, 20418093, 20501844, 20554749, 20640597, 20664043, 20853316, 20959865, 21060860, 21118973, 21263130, 21382839, 21390041, 21541012, 21767389, 21795501, 21822685, 21838531, 21996731, 22124578, 22144180, 22160591, 22287734, 22374580, 22452962, 22665522, 22731805, 22734045, 22910930, 22951594, 22965832, 22988296, 23124475, 23143756, 23184080, 23225170, 23435034, 23527311, 23544012, 23593120, 23658459, 23893088, 23912956, 24043118, 24054997, 24125968, 24218030, 24265722, 24290378, 24338936, 24548884, 24747080, 24927736, 25270516, 25292094, 25333473, 25788520, 25956309, 26025410, 26421298, 26431494, 26728143, 26743380, 26911390, 27236187, 27461607, 27476168, 27572905, 27764800, 27966449, 28132898, 28757652, 28869838, 29104507, 29180470, 29263244, 29372690, 29390357, 29872343, 30206133, 30257985, 30875371, 30956945, 31002855, 31207222, 31699826, 31759353, 8814701, 9184170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17529967, 17529973, 18438407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	17529967, 17529973, 19330030, 20453838, 20872241, 21060860, 21263130, 22951594, 23535729, 23544012, 24143190, 24493630, 25751625, 27197191, 27354352, 27764800, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	10604729, 11056689, 11564899, 15311216, 17133345, 17529967, 17529973, 17997823, 18225535, 18285324, 18326623, 18337450, 18355772, 18437204, 18462018, 18483326, 18575591, 18973230, 19028704, 19094228, 19223389, 19232126, 19365863, 19500394, 19536173, 19656774, 19706770, 19789366, 19861516, 19931039, 20056625, 20348248, 20484103, 20554749, 20605201, 20699374, 20853316, 20959865, 21060860, 21118973, 21194473, 21382839, 21475998, 21541012, 21596841, 21767389, 21791674, 21795501, 21949660, 22045194, 22053997, 22087758, 22269215, 22357627, 22374580, 22452962, 22532573, 22665522, 22734045, 22867275, 22910930, 23354978, 23435034, 23486537, 23527311, 23544012, 23593120, 23635555, 23717390, 23758675, 23893088, 23912956, 24043118, 24054997, 24125968, 24143190, 24171766, 24218030, 24265722, 24290378, 24338936, 24510657, 24548884, 24743323, 24817968, 24899248, 24927736, 24998937, 25292094, 25333473, 25794154, 25956309, 26011570, 26070784, 26421298, 26431494, 26743380, 26803517, 26911390, 27236187, 27476168, 27705907, 27764800, 27848153, 28408616, 28835367, 28869838, 29180470, 29898891, 30078824, 30206133, 30359238, 30745300, 30875371, 31125336, 31759353, 31929516, 32348852, 32366738, 32381997, 32409632, 32620845, 32852708, 33112566, 33126731, 33735170, 34946556, 34967576, 35726195, 36332363, 36470901, 37107577, 37830168	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	21949660, 23308200, 33964913	Associate	★☆☆☆☆ Found in Text Mining only
Bronchomalacia	Bronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	22404656, 29722558		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	29722558	Associate	★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	21397175, 22585574, 25706251		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	36555181	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	37427430	Associate	★☆☆☆☆ Found in Text Mining only
Camptocormia	Camptocormia	Pubtator	27240702	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15581609, 18337450, 21372219, 23545251, 23977259, 24817968, 25686244, 28871001, 29068468, 30417500, 30979816, 32429937, 7791773, 8440743	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10602477, 21464042, 24448819, 25972329, 28945747, 31401665		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	18575591	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	33212152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	21725289, 24696723, 32187665, 35866380	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25091573, 25834803, 31940413, 32161315, 32378800, 33891563, 34476330, 38230456	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26645239	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	37830168	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10602477, 17145872, 17697126, 24817968, 27669755, 30387298, 31146385		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18829480, 25035393, 29420662, 30013642		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	21949660, 23308200, 23468243, 29709729		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23778141, 29229394	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	17525264, 22159401, 34117747	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23444225, 33077920	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	36812376	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22427941, 22768234, 27154171, 31254517, 32596330, 37821306	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	19500394		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18973230, 20106510, 20595807, 22926736, 27812884, 29970688		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	28501555		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	30194005	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	9070494		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20043066, 29575013, 31316631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	20043066		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20043066, 29575013, 31316631		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	BEFREE	29280877		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23558953, 24837095, 25763789, 27216979, 28034880, 28844952, 29182496, 30067876, 31255945, 31351075, 31807010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24550739, 24563076, 27829278, 28034880, 28255027, 28445152, 28972963, 29182496, 29848569, 30160357, 30420614, 31109923, 31186529, 31351075, 31371345, 31911531, 32203698, 32252259, 32677452, 33765338, 33822966, 33926920, 34080753, 34250419, 34476330, 34971568, 35176488, 35477128, 35544727, 35716043, 35718679, 35749865, 35871236, 35986087, 36114955, 36162702, 36190545, 36206041, 36462464, 36635225, 37045473, 37108676, 37184679, 37270847, 37292215, 37369494, 37553804, 37843855, 39375615, 39643892, 39672383, 39706336, 39803868, 40422514	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	26258846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choledochal Cyst	Cholecystolithiasis	Pubtator	36996081	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	35871236	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	12533693	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	12618336		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12618336		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	36689318	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24445144	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10739532		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24141781		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	36190545	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	17873121, 28762674	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Palate	Cleft palate	Pubtator	21740177, 31262291, 31387623, 8651276	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	BEFREE	24776567		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	BEFREE	24776567		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24968263, 25794154		★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	35170141	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28835367, 40302086	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11325814, 21745712, 24968263, 28871001, 29573334, 30979816		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15643506		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19691111, 25926053, 26506517, 27756406, 28675510, 28835367, 29573334, 30979816, 34938284, 35544729, 35585358, 36700211, 37543577	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	30253032		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22879958	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30711679		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25678238, 25763789, 31351075		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	35718679	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	36755349	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	21222001		★☆☆☆☆ 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 keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital Microtia	BEFREE	31258676		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	22987770		★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	16501574		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	31258676		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27379982, 30527746		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	BEFREE	25045033		★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronal hypospadias	Coronal hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32469254	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	36060667	Associate	★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	15282208, 21725289	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	10541159, 10574673, 10706360, 10712195, 11069376, 11484208, 11596961, 12162872, 12186468, 15282208, 15523492, 15602758, 16418739, 16470531, 17105336, 20163525, 20635358, 22117175, 22355256, 22665975, 22872266, 23913723, 25174698, 25886248, 27028366, 27430617, 27891566, 28574949, 28768473, 28901406, 29223639, 29557836, 29848297, 31068123, 31318164, 31463736, 31640617, 7493034, 7581378, 7592798, 7607643, 7655462, 7719344, 7719345, 7795583, 7806229, 7874170, 7987400, 8755573, 8880573, 9475590, 9475591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial dysostosis	Pubtator	10712195, 11781872, 14969379, 15206560, 15282208, 16418739, 16470531, 20635358, 22355256, 22665975, 25174698, 27430617, 28901406, 29848297, 31318164, 31640617, 33386632, 33725872, 35235708, 35885943, 36755349, 39187417, 8644708, 8880573, 9152842	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial Dysostosis	LHGDN	12162872		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial Dysostosis	CTD_human_DG	9152842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial Dysostosis	Craniofacial Dysostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	10541159, 10574673, 10706360, 10712195, 11069376, 11484208, 12162872, 12186468, 15282208, 15523492, 15602758, 16418739, 16470531, 17105336, 20163525, 20635358, 22117175, 22355256, 22665975, 22872266, 23913723, 25174698, 25886248, 27028366, 27430617, 27891566, 28901406, 29223639, 29557836, 29848297, 30201724, 31318164, 31463736, 31640617, 7493034, 7581378, 7592798, 7607643, 7655462, 7719344, 7719345, 7795583, 7806229, 7874170, 7987400, 8755573, 8880573, 9475590, 9475591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	UNIPROT_DG	10574673, 11173845, 11380921, 11781872, 17803937, 7581378, 7655462, 7874170, 7987400, 8528214, 8644708, 8946174, 8956050, 9152842, 9521581, 9677057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	CLINVAR_DG	10851026, 15389579, 17251833, 20489451, 24656465, 25867380, 27028366, 27481450, 7668257, 7719344, 7874170, 8651276, 9677057, 9700203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	GENOMICS_ENGLAND_DG	16061565, 16501574, 22387015, 27604308, 28425981, 7719344, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysostosis type 1	Craniofacial Dysostosis	CTD_human_DG	9152842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostoses	Craniosynostosis	Pubtator	10329600, 11781872, 14629875, 15282208, 15625620, 17525745, 22387015, 24578066, 25174698, 27430617, 28849010, 29848297, 31822532, 32415020, 32510873, 34633507, 35235708, 35331937, 36292735, 40362441, 9682222, 9784595	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	10329600, 10394936, 10406670, 10951518, 11173845, 11325814, 11484208, 11596961, 11781872, 11870239, 12357470, 14613973, 14629875, 15282208, 15310757, 15389579, 15523615, 15602758, 15625620, 16158432, 16418739, 16467261, 16844695, 16955501, 17515438, 17525745, 17882438, 18242159, 18726952, 19186770, 19243295, 20124286, 21397175, 21928350, 22048896, 22585574, 22661218, 22871183, 22872262, 22872266, 22987770, 23239640, 23593218, 23913723, 24580805, 24656465, 25174698, 25425289, 25706251, 26096994, 26362256, 27028366, 27481450, 27683237, 28121883, 28790902, 28849010, 29223639, 29230096, 29392564, 29848297, 29868125, 30228104, 30589795, 30851747, 31064775, 31640617, 7493034, 7581378, 7719345, 8522336, 8595889, 8946174, 8957519, 9002682, 9048930, 9310332, 9332670, 9462761, 9502772, 9521581, 9700203, 9843049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	LHGDN	11781872, 12072807, 17189145, 17414280, 18391499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	16465081, 8957519, 9605588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CLINVAR_DG	17803937		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	GENOMICS_ENGLAND_DG	22387015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Crouzon disease	Crouzon Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	BEFREE	11424131, 12000365, 12900900, 17449949, 18247426, 25706251, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	UNIPROT_DG	12000365, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	CLINVAR_DG	12575301, 12884424, 12884434, 16158432, 16838304, 23348274, 23754559, 24127277, 25271085, 25361936, 25425289, 26362256, 27481450, 7558045, 7655462, 7773284, 7874170, 7987400, 8644708, 8946174, 8957519, 9586546, 9677057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	GENOMICS_ENGLAND_DG	16061565, 16501574, 22387015, 27604308, 28425981, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	Beare-stevenson cutis gyrata syndrome	Pubtator	17449949, 17525745, 27079505	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	ORPHANET_DG	21438135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Gyrata Syndrome of Beare And Stevenson	FGFR2-Related Craniosynostosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis verticis gyrata	Cutis Verticis Gyrata	BEFREE	20499434		★☆☆☆☆ Found in Text Mining only
Cystic Adenomatoid Malformation of Lung, Congenital	Congenital Cystic Adenomatoid Malformation Of Lung	BEFREE	18558180		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21173787		★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26400350, 31318164		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	14695195, 18973581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	29753329	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	22533443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Coordination Disorder	Developmental dyspraxia	CTD_human_DG	16465081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	22987770, 30639323		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	34930438	Stimulate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	25981814, 34511423	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	BEFREE	22813799		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12756187		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10067911, 10633130, 10712195, 10735635, 11343323, 11781872, 1519658, 15793702, 15883293, 16061565, 16501574, 16740155, 18726952, 19610084, 22387015, 24127277, 25209230, 25245177, 25343114, 26362256, 28901406, 4078868, 7573032, 7987400, 8434615, 9585583		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	19403560		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	BEFREE	29848297		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysphoric mood	Pubtator	29848297	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	16906598	Associate	★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	27323706		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endocrine System Diseases	Endocrine system disease	Pubtator	36332363	Associate	★☆☆☆☆ Found in Text Mining only
endometrial adenoacanthoma	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	CLINVAR_DG	18552176, 22238366, 23002168, 23908597		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	29937308, 9070494		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17525745, 18757403, 18785201, 19147536, 19243295, 20106510, 21285871, 21725289, 22383975, 23060048, 23443805, 23468082, 23778141, 23908597, 24448819, 25517871, 25981814, 26294741, 26574622, 27550940, 28314589, 28953502, 29263244, 30002137, 30094104, 30537101, 30963412		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	21936542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	32187665	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17525745, 18757403, 18785201, 19147536, 20106510, 21725289, 22383975, 23060048, 23300780, 25794154, 25981814, 28314589, 30002137, 35108035, 35866380, 37759450, 40209441	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CLINVAR_DG	17525745, 21367659, 25157968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	21936542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	17482184, 23640291		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17482184, 35311468	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	17482184		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18285324, 23640291		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	37427430	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20595807, 27812884, 29970688		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	18575591		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19509166		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28857247	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23426935, 28857247, 34224333	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	BEFREE	20163525, 7493034		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	26258846		★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28628842		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28640357, 29152066		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	29722558	Associate	★☆☆☆☆ Found in Text Mining only
Familial scaphocephaly syndrome, McGillivray type	Scaphocephaly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGFR2-related bent bone dysplasia	Bent Bone Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	26806567, 33382535	Associate	★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	26259677		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	17692400		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	8522336		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	23977259		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28118661	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24626858, 25561797, 28002800, 29177434		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	25981814	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36416959	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	31948066, 35170141	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10433932, 21691733, 24601786, 33853673, 34341009	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20473936, 24968791, 7964981		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24967941		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20473936, 24968791, 31025173		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32839179, 36462464	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24489893		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	34383782	Inhibit	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	11781872, 15206560	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	CTD_human_DG	9002682		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	18767044		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	12692135, 16177572		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CLINVAR_DG	23786770		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36755349	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24177593, 28408616	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	36996081	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18973230	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21173787, 21936542		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	LHGDN	18387281		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18767044, 22144180		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	18767044		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	23444225		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	25886248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	35866380	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25981814, 37154169	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypochondroplasia (disorder)	Hypochondroplasia	BEFREE	11071087		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30629183	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30573948	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30837551	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37770592	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26138239, 29722558	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29722558, 30013642		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	29722558		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22987770		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	25628040		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	31830366		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	16465081		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	BEFREE	22872262		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	24550739, 24563076, 24837095, 25608663, 27216979, 27259014, 28034880, 28043904, 28628842, 28972963, 29182496, 29514108, 30067876, 30160357, 30420614, 31109923, 31255945		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	26258846		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28869838		★☆☆☆☆ Found in Text Mining only
Irido-corneal dysgenesis	Anterior segment dysgenesis	BEFREE	29557836		★☆☆☆☆ Found in Text Mining only
Isolated hypoplasia of the right ventricle	Isolated right ventricular hypoplasia	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	CLINVAR_DG	10874645, 11173845, 11781872, 12884424, 15316116, 16418739, 17693524, 20133659, 22558232, 23348274, 24127277, 25271085, 25361936, 27028366, 7655462, 7987400, 7989400, 8528214, 8650126, 8755573		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	BEFREE	11343323, 27683237, 7581378, 7806229, 7874170, 9385368		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jackson-Weiss syndrome	Jackson-Weiss Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	ORPHANET_DG	21438135		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	GENOMICS_ENGLAND_DG	22387015, 27604308, 28425981, 8696350		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	UNIPROT_DG	7874170, 8528214, 8644708, 9385368, 9677057		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JACKSON-WEISS SYNDROME	Jackson-Weiss Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kaposi Sarcoma	Kaposi Sarcoma	LHGDN	18804962		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimal Puncta, Absence of	Absent lacrimal punctum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	ORPHANET_DG	16501574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	GENOMICS_ENGLAND_DG	16501574, 27604308, 28425981, 8696350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	UNIPROT_DG	16501574, 18056630		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	BEFREE	17682060, 18056630, 30253032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31781300		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12482414		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33924850	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27903959, 36509141	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27903959, 29263244		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	26465941		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	CTD_human_DG	9002682		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	10631169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limbal stem cell deficiency	Limbal stem cell deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	29107558		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	26036639	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	26036639		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20093481, 20798558, 25091573, 25608663, 28043904		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	17692400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	17692400		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24141781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	16216128	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25608663		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28445128, 29722558	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17311802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	18829480, 25477232	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24457912, 30979816, 40302086	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27154171	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	37715207	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22404656		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	31822532	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10604729, 11056689, 11564899, 15561780, 17133345, 17243131, 17520678, 17529973, 17997823, 18285324, 18326623, 18355772, 18437204, 18462018, 18483326, 1851551, 18575591, 18575892, 18636142, 18829569, 18845558, 18973230, 19028704, 19092773, 19212647, 19223389, 19365863, 19469636, 19487280, 19497954, 19500394, 19536173, 19582883, 19601767, 19617217, 19789366, 19861516, 20056625, 20299982, 20300826, 20348248, 20364400, 20418093, 20501844, 20554749, 20640597, 20664043, 20853316, 20959865, 21060860, 21118973, 21263130, 21382839, 21390041, 21541012, 21767389, 21795501, 21822685, 21838531, 21996731, 22124578, 22144180, 22160591, 22287734, 22374580, 22452962, 22665522, 22731805, 22734045, 22910930, 22951594, 22965832, 22988296, 23124475, 23143756, 23184080, 23225170, 23435034, 23527311, 23544012, 23593120, 23658459, 23893088, 23912956, 24043118, 24054997, 24125968, 24218030, 24265722, 24290378, 24338936, 24548884, 24747080, 24927736, 25270516, 25292094, 25333473, 25788520, 25956309, 26025410, 26421298, 26431494, 26728143, 26743380, 26911390, 27179038, 27236187, 27461607, 27476168, 27572905, 27640304, 27764800, 27966449, 28132898, 28757652, 28869838, 29104507, 29180470, 29263244, 29372690, 29390357, 29872343, 30206133, 30257985, 30875371, 30956945, 31002855, 31207222, 31699826, 31759353, 8814701, 9184170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17529967, 17529973, 18438407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	GWASDB_DG	17529967, 17529973, 19330030, 20453838, 20872241, 21263130, 22951594, 23535729, 24143190		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	18757403, 18785201, 19147536, 19243295, 20106510, 22383975, 23060048, 23443805, 23468082, 25517871, 25981814, 26294741, 26574622, 27550940, 28314589, 28953502, 30002137, 30094104, 30537101, 30963412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29420662		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17311802		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18829480, 25035393, 29420662, 30013642		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18973230, 20106510, 20595807, 22926736, 27812884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24327018, 24899248, 24975163, 27510923		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10353739, 11069376, 11170144, 12111699, 16956712, 23558953, 24839986, 28802831, 28930565, 30761180, 30837551, 31043681, 31316598, 9444954		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	19500394, 31254372		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16391783, 16773196, 17459342, 17697126, 18381441, 20331976, 22240789, 23493349, 23545898, 24457912, 24518603, 24968263, 25047501, 25086186, 25222187, 25576915, 25882375, 25972329, 26254407, 26516773, 27107424, 27197184, 27230412, 27245147, 27802183, 28002800, 28122360, 28501555, 28618942, 28629429, 28852882, 29177434, 29263244, 29434882, 29786108, 29876827, 29987267, 30044964, 30045926, 30355943, 30662521, 31258762, 31396354, 9816310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21173787, 21936542		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	15564323, 17699848, 18829569, 22345151, 23977259, 24899248		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10602477, 17145872, 17697126, 24817968, 27669755, 30387298, 31146385		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11003564, 12684693, 15368475, 15796961, 16010693, 16391783, 18563556, 18594526, 18636142, 18757403, 19082464, 19147536, 19212647, 19387476, 19403560, 19500394, 19509166, 19617217, 20043066, 21745712, 22130232, 22440254, 22440694, 22890726, 22926736, 23545898, 24077287, 24265722, 24817968, 24975163, 25091573, 25561797, 25788520, 25868865, 26025410, 26200212, 26933914, 27095246, 27179038, 28618942, 28629429, 28972963, 29420662, 29755676, 29786108, 30761180, 31146385, 31255687, 31560229, 9428926		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20043066, 29575013, 31316631		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24968263, 25794154		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	BEFREE	28802831		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17529967, 17529973, 18438407		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11564899, 1851551, 18767044, 20853316, 21767389, 23527311, 24265722, 27764800, 7692948		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15561780, 17133345, 17529973, 17997823, 18355772, 18483326, 18845558, 19028704		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17529967, 17529973, 18438407		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17529967, 17529973, 18438407		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19147536, 19387476, 19500394, 23696246, 24858661		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	19147536		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19147536, 21753785, 24858661, 25769001	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	16465081		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	14695195, 18973581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	22404656		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	30417500		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	30417500, 31527449	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	31043681		★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphakia	Microphakia	BEFREE	31691004		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	28270036		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor Skills Disorders	CTD_human_DG	16465081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Diseases	Mouth disease	Pubtator	26465941	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25029526	Associate	★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke Syndrome	BEFREE	19755431		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10067911, 10633130, 10712195, 10735635, 11343323, 11781872, 1519658, 15793702, 15883293, 16061565, 16501574, 16740155, 18726952, 19610084, 22387015, 24127277, 25209230, 25245177, 25343114, 26362256, 28901406, 4078868, 7573032, 7987400, 8434615, 9585583		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	10631169		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24578066	Associate	★☆☆☆☆ Found in Text Mining only
Muscular ventricular septum defect	Muscular ventricular septal defect	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32469254	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	24027017	Associate	★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	26036639		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	31115494	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31115494		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10602477, 11519853, 11564899, 12111699, 12569015, 12684685, 16010693, 17525745, 17607666, 18241002, 18355772, 1851551, 18563556, 18636142, 18767044, 18829480, 19028704, 19094228, 19147536, 19243295, 19509166, 20473936, 20709759, 20798558, 20853316, 21036728, 21475998, 21625213, 21665938, 21725289, 21745712, 22345151, 22383975, 22440254, 22924850, 22965832, 22988296, 23060048, 23184080, 23185502, 23443805, 23444225, 23493349, 23527311, 24073846, 24141781, 24242861, 24327018, 24457912, 24687871, 24817968, 24837095, 24899248, 24968791, 24975163, 25047501, 25292094, 25315765, 25743022, 26036639, 26385890, 26831663, 26933914, 26943575, 27107424, 27179038, 27216979, 27669755, 27821131, 28122360, 28327938, 28339036, 28501092, 28734796, 28776573, 28978722, 29152066, 29263244, 29423271, 29446487, 29514108, 29656749, 29752438, 30472730, 30550736, 30652228, 30662521, 30882996, 31255687, 31316631, 31807010, 7705943, 9444954		★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17350460		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34807483	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	26993773	Associate	★☆☆☆☆ Found in Text Mining only
Nevus sebaceous	Epidermal nevus syndrome	BEFREE	27095246		★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	30206133		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18829480, 18849352, 21152424, 25035393, 29263244, 30267839		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	19570652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	24004862	Associate	★☆☆☆☆ Found in Text Mining only
Odontome	Odontome	CTD_human_DG	10631169		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	18438407, 19387476, 22124578, 23143756, 24290378, 26743380		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	GWASCAT_DG	28864454		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	33725872	Associate	★☆☆☆☆ 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
Osteoarthritis	Osteoarthritis	Pubtator	26400350, 31318164	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	38098042	Associate	★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	15625620		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31113874, 38098042, 40362441	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10585768, 15310757, 15796961, 24924168		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	15796961		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35887382	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17997823		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18973230, 20106510, 20595807, 22926736, 27812884		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	17997823, 20106510, 23174937, 28734796, 33273524, 36856760	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29229394	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24327018, 24899248, 24975163, 27510923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24975163		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17525264		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17525264, 18594526, 34117747, 34511423, 35163506, 35583261, 9665482	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	27379982		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	25056374	Associate	★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	10523826		★☆☆☆☆ Found in Text Mining only
PARIETAL FORAMINA	Parietal Foramina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	17264867, 31718875		★☆☆☆☆ Found in Text Mining only
Pfeiffer Syndrome	Pfeiffer Syndrome	UNIPROT_DG	10394936, 10945669, 11173845, 11781872, 16844695, 17803937, 7719333, 7719345, 8644708, 9002682, 9150725, 9693549, 9719378		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	BEFREE	10394936, 10712195, 11173845, 11596961, 11807866, 15282208, 15523615, 16418739, 19066959, 20809772, 22987770, 23532954, 24127277, 25129254, 26096994, 27497702, 27762162, 29280877, 29915381, 7493034, 7719345, 7795583, 9150725, 9279753, 9332670, 9475590, 9475591, 9714439		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	CLINVAR_DG	11390973, 12884424, 22664175, 23495007, 24127277, 24489893, 25759925, 25867380, 7719344, 7795583, 7987400, 8651276, 9462761, 9521581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	GENOMICS_ENGLAND_DG	16501574, 22387015, 27604308, 28425981, 8696350		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer Syndrome	Pfeiffer Syndrome	CTD_human_DG	17694057, 19186770, 9002682, 9502772		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pfeiffer syndrome type 1	Pfeiffer Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfeiffer syndrome type 2	Pfeiffer Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfeiffer syndrome type 3	Pfeiffer Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pfeiffer type acrocephalosyndactyly	Pfeiffer Type Acrocephalosyndactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Adenoma	Pituitary adenoma	BEFREE	28521414		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	30206133	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	BEFREE	9152842		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	16141466		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	LHGDN	16440883		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	18727701	Stimulate	★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	16465081		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	18285324, 18785201	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10353739, 11069376, 11170144, 12111699, 16956712, 23558953, 24839986, 28802831, 30761180, 30837551, 31043681, 31316598, 9444954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	10386468		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	24385678	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15655558, 26885621, 28802831, 30837551	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	9444954		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	PSYGENET_DG	19570652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTEN Hamartoma Tumor Syndrome	PTEN Hamartoma Tumor Syndrome	CTD_human_DG	9002682		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29722558, 33879098	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30049844		★☆☆☆☆ Found in Text Mining only
Rachischisis	Rachischisis	CTD_human_DG	9605588		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	BEFREE	15041782		★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	26831663		★☆☆☆☆ Found in Text Mining only
Recurrent erosion of cornea	Erosion Of Cornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23444225, 27379982		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28919491		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	28849010	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30417500		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34850536	Associate	★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	ORPHANET_DG	10425034, 9585583		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	15829502, 16526917, 24656465, 26289989		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	CTD_human_DG	17694057, 19186770, 9002682, 9502772		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	GENOMICS_ENGLAND_DG	22387015, 27604308		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen syndrome	Saethre-Chotzen Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	19755431		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	ORPHANET_DG	16061565		★☆☆☆☆ Found in Text Mining only
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	UNIPROT_DG	16061565, 17803937		★☆☆☆☆ Found in Text Mining only
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	GENOMICS_ENGLAND_DG	27604308, 8696350		★☆☆☆☆ Found in Text Mining only
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	19755431		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	18813210, 19570652, 22404656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	18813210, 22404656		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	31318164	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	31401665		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	18437204	Associate	★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	24582960		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	36292735	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	28802831		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	CTD_human_DG	9605588		★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	27323706		★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19005751, 21838531, 23527311, 25292094		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18829480		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18829480, 19500394, 22768234, 29270870		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19509166, 23426935, 25242085, 28857247, 31523191		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25056374, 28984303, 29879932, 31894857	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26465941	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	23786770		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	23786770, 25035393, 27581340		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31254372, 31254517		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30662810, 7615354		★☆☆☆☆ Found in Text Mining only
Status Dysraphicus	Status Dysraphicus	CTD_human_DG	9605588		★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11325814, 14595756, 16391783, 16773196, 17459342, 17697126, 18381441, 20331976, 22240789, 22440694, 23493349, 23545898, 24457912, 24518603, 24968263, 25047501, 25086186, 25222187, 25576915, 25882375, 25972329, 26254407, 26516773, 27107424, 27197184, 27230412, 27245147, 27802183, 28002800, 28122360, 28501555, 28618942, 28629429, 28852882, 29263244, 29434882, 29786108, 29876827, 29987267, 30044964, 30045926, 30355943, 30662521, 31258762, 31396354, 9816310		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11003564, 1313574, 21173787, 22034905, 22240789, 22751462, 23545898, 24457912, 25222187, 25407459, 25561797, 25743022, 25882375, 26268776, 26587992, 27230412, 27437872, 27583849, 27779515, 27802183, 28056982, 28339036, 28629429, 28835367, 28852882, 29177434, 29987267, 31094225, 32089408, 32946655, 33389016, 33633310, 34010049, 34258618, 34376535, 34551773, 35167603, 35585358, 36325957, 36985681, 37903652, 39919334, 7791773, 9765619	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17459342, 18381441		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21173787, 21936542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	36416959	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	Pubtator	32203698	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	36755349	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	11335797, 12357470, 15282208, 15310757, 24776567, 8651276, 9700203, 9719378, 9973282		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	15282208, 8651276, 9719378	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	LHGDN	17189145		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	BEFREE	12186468		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	21996728		★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	BEFREE	12186468		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	16010693		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	23620752	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28469731, 29917195	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15564323, 17699848, 18829569, 22345151, 23977259, 24899248, 25384085		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26680454	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	23977259		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	17699848, 18829569, 22345151, 23977259, 24899248		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23977259, 24899248, 32812852	Associate	★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	7874170		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	16465081, 8957519, 9605588		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	20101236, 23696246, 25868865		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24510657, 26806567, 27472710, 35384527	Associate	★☆☆☆☆ Found in Text Mining only
Uhl anomaly	Uhl anomaly	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	29526646, 29655165, 8651276		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19822079	Stimulate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24817968, 31146385, 34114376, 36462464	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27669755	Inhibit	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	21705796		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26598538, 31161538		★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25669975, 27154171, 32951893, 34951738	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	17525745	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36232829	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	37154169	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	22427941	Inhibit	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	16687131		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	21222001		★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	28129744	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	28129744		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	28129744		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FGF7 4 shared diseasesLiver cirrhosis, Cleft lip, Cleft palate, Complete unilateral cleft lip 19 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Regulation of actin cytoskeleton, Gastric cancer, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, FRS-mediated FGFR2 signaling, PI3K Cascade +7 more 7 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), CTD (Liver cirrhosis), Disgenet (Liver cirrhosis) Related via 19 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly Disgenet. FGF10 6 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip, Craniosynostosis, Lacrimoauriculodentodigital syndrome, Ladd syndrome 19 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Regulation of actin cytoskeleton, Gastric cancer, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, FRS-mediated FGFR2 signaling, PI3K Cascade +7 more 9 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), Disgenet (Craniosynostosis), Disgenet (Lacrimoauriculodentodigital syndrome), Orphanet (Lacrimoauriculodentodigital syndrome), HPO (Lacrimoauriculodentodigital syndrome) Related via 19 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly Disgenet. FGF3 4 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip, Craniofacial abnormalities 19 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Regulation of actin cytoskeleton, Gastric cancer, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, FRS-mediated FGFR2 signaling, PI3K Cascade +7 more 7 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), CTD (Craniofacial abnormalities), Disgenet (Craniofacial abnormalities) Related via 19 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly Disgenet. FGFR3 9 shared diseasesCervical cancer, Cleft lip, Cleft palate, Complete unilateral cleft lip, Craniofacial dysostosis, Craniosynostosis, Lacrimoauriculodentodigital syndrome, Ladd syndrome, Saethre-chotzen syndrome 14 shared pathwaysEGFR tyrosine kinase inhibitor resistance, MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Endocytosis, Signaling pathways regulating pluripotency of stem cells, Regulation of actin cytoskeleton, Central carbon metabolism in cancer, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer +2 more 13 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), Disgenet (Craniofacial dysostosis), Disgenet (Craniosynostosis), Disgenet (Lacrimoauriculodentodigital syndrome), Orphanet (Lacrimoauriculodentodigital syndrome), HPO (Lacrimoauriculodentodigital syndrome), Disgenet (Ladd syndrome), Disgenet (Saethre-chotzen syndrome) +1 more Related via 14 shared pathways including EGFR tyrosine kinase inhibitor resistance, MAPK signaling pathway — evidence mostly Disgenet. FGFR1 7 shared diseasesCleft lip, Cleft palate, Complete unilateral cleft lip, Craniofacial abnormalities, Craniosynostosis, Lung neoplasms, Pfeiffer syndrome 13 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Signaling pathways regulating pluripotency of stem cells, Regulation of actin cytoskeleton, Prostate cancer, Central carbon metabolism in cancer, PIP3 activates AKT signaling, RAF/MAP kinase cascade, Constitutive Signaling by Aberrant PI3K in Cancer, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling +1 more 17 shared evidence sourcesCTD (Cleft lip), Disgenet (Cleft palate), CTD (Cleft palate), Disgenet (Cleft lip), Disgenet (Complete unilateral cleft lip), CTD (Craniofacial abnormalities), Disgenet (Craniofacial abnormalities), Disgenet (Craniosynostosis), CTD (Craniosynostosis), CTD (Lung neoplasms), ClinVar (Pfeiffer syndrome), Disgenet (Pfeiffer syndrome) +5 more Related via 13 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FGF7	4	["Liver cirrhosis","Cleft lip","Cleft palate","Complete unilateral cleft lip"]	19	["MAPK signaling pathway","Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","Regulation of actin cytoskeleton","Gastric cancer","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling","FRS-mediated FGFR2 signaling","PI3K Cascade"]	7	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","CTD (Liver cirrhosis)","Disgenet (Liver cirrhosis)"]
FGF10	6	["Cleft lip","Cleft palate","Complete unilateral cleft lip","Craniosynostosis","Lacrimoauriculodentodigital syndrome","Ladd syndrome"]	19	["MAPK signaling pathway","Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","Regulation of actin cytoskeleton","Gastric cancer","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling","FRS-mediated FGFR2 signaling","PI3K Cascade"]	9	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","Disgenet (Craniosynostosis)","Disgenet (Lacrimoauriculodentodigital syndrome)","Orphanet (Lacrimoauriculodentodigital syndrome)","HPO (Lacrimoauriculodentodigital syndrome)"]
FGF3	4	["Cleft lip","Cleft palate","Complete unilateral cleft lip","Craniofacial abnormalities"]	19	["MAPK signaling pathway","Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","Regulation of actin cytoskeleton","Gastric cancer","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling","FRS-mediated FGFR2 signaling","PI3K Cascade"]	7	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","CTD (Craniofacial abnormalities)","Disgenet (Craniofacial abnormalities)"]
FGFR3	9	["Cervical cancer","Cleft lip","Cleft palate","Complete unilateral cleft lip","Craniofacial dysostosis","Craniosynostosis","Lacrimoauriculodentodigital syndrome","Ladd syndrome","Saethre-chotzen syndrome"]	14	["EGFR tyrosine kinase inhibitor resistance","MAPK signaling pathway","Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","Endocytosis","Signaling pathways regulating pluripotency of stem cells","Regulation of actin cytoskeleton","Central carbon metabolism in cancer","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer"]	13	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","Disgenet (Craniofacial dysostosis)","Disgenet (Craniosynostosis)","Disgenet (Lacrimoauriculodentodigital syndrome)","Orphanet (Lacrimoauriculodentodigital syndrome)","HPO (Lacrimoauriculodentodigital syndrome)","Disgenet (Ladd syndrome)","Disgenet (Saethre-chotzen syndrome)"]
FGFR1	7	["Cleft lip","Cleft palate","Complete unilateral cleft lip","Craniofacial abnormalities","Craniosynostosis","Lung neoplasms","Pfeiffer syndrome"]	13	["MAPK signaling pathway","Ras signaling pathway","Rap1 signaling pathway","Calcium signaling pathway","Signaling pathways regulating pluripotency of stem cells","Regulation of actin cytoskeleton","Prostate cancer","Central carbon metabolism in cancer","PIP3 activates AKT signaling","RAF\/MAP kinase cascade","Constitutive Signaling by Aberrant PI3K in Cancer","PI5P, PP2A and IER3 Regulate PI3K\/AKT Signaling"]	17	["CTD (Cleft lip)","Disgenet (Cleft palate)","CTD (Cleft palate)","Disgenet (Cleft lip)","Disgenet (Complete unilateral cleft lip)","CTD (Craniofacial abnormalities)","Disgenet (Craniofacial abnormalities)","Disgenet (Craniosynostosis)","CTD (Craniosynostosis)","CTD (Lung neoplasms)","ClinVar (Pfeiffer syndrome)","Disgenet (Pfeiffer syndrome)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 3 of 5 related genesFGF3, FGFR3, FGFR1 Alzheimer disease Linked via 2 of 5 related genesFGF10, FGFR3 Orofacial cleft Linked via 2 of 5 related genesFGF10, FGFR1 Diabetes mellitus type 1 Linked via 2 of 5 related genesFGF3, FGFR3 Giant cell glioblastoma Linked via 2 of 5 related genesFGFR3, FGFR1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	3	["FGF3","FGFR3","FGFR1"]
Alzheimer disease	2	["FGF10","FGFR3"]
Orofacial cleft	2	["FGF10","FGFR1"]
Diabetes mellitus type 1	2	["FGF3","FGFR3"]
Giant cell glioblastoma	2	["FGFR3","FGFR1"]