TP63 (tumor protein p63)

Gene

• Entrez ID: 8626
• Gene name: Tumor protein p63
• Gene symbol: TP63
• Synonyms (NCBI Gene): AIS, B(p51A), B(p51B), EEC3, KET, LMS, NBP, OFC8, RHS, SHFM4, TP53CP, TP53L, TP73L, p40, p51, p53CP, p63, p73H, p73L
• Chromosome: 3
• Chromosome location: 3q28
• Summary: This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61732782	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs113993963	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs113993964	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs113993965	G>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs113993966	C>G	Pathogenic	Missense variant, coding sequence variant
rs113993967	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908835	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908836	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908837	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908838	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908839	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908840	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908841	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908842	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs121908843	T>G	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs121908844	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908845	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs121908846	T>C,G	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant
rs121908847	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908848	C>A,T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908849	G>A	Pathogenic	Missense variant, coding sequence variant
rs141278696	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs774221257	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant
rs794727122	CCTTC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs797044484	C>G	Pathogenic	Missense variant, coding sequence variant
rs797044843	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs864621968	A>G	Pathogenic	Missense variant, coding sequence variant
rs886039442	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039443	T>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant
rs886041251	C>T	Pathogenic	Missense variant, coding sequence variant
rs900140738	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs941268998	C>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057517841	T>C	Pathogenic	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1057517984	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517985	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518137	AGG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1057518399	G>A	Likely-pathogenic	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1057520664	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057520683	A>G	Pathogenic	Intron variant, initiator codon variant, missense variant
rs1057520750	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1057521750	G>C	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs1064793282	G>T	Pathogenic	Missense variant, coding sequence variant
rs1064793283	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1205536026	C>T	Pathogenic	Missense variant, coding sequence variant
rs1440083511	T>C	Likely-pathogenic	3 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1553840705	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553845515	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553856553	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1553857303	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553857889	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553863660	G>A	Likely-pathogenic	Genic downstream transcript variant, 3 prime UTR variant, missense variant, coding sequence variant
rs1560274243	A>G	Pathogenic	Missense variant, coding sequence variant
rs1560274283	AAG>-	Pathogenic	Inframe indel, coding sequence variant
rs1560277554	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs1560301690	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560311010	G>A	Pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1560311554	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, genic downstream transcript variant
rs1577195893	AGACCTGTTGAAAATCAATAGTCCCCACTCTTCAGTGTCCCTTGCTCACCATTATTTCCATGTTTGTCTTCCTAGGACCTCAATACAGTCTCCATCTTCATATGGTAACAGCTCCCCACCTCTGAACAAAATGAACAGCATGAACAAGCTGCCTTCTGTGAGCCAGCTTATCAACCCTCAGCAGCGCAACGCCCTCACTCCTACAACCATTCCTGATG>-	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1577206350	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs1577213466	T>C	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004281	hsa-miR-92a-3p	Luciferase reporter assay, qRT-PCR, Western blot	19608627
MIRT004248	hsa-miR-203a-3p	qRT-PCR, Western blot	18483491
MIRT004248	hsa-miR-203a-3p	Luciferase reporter assay	18483491
MIRT005329	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	18829576
MIRT004248	hsa-miR-203a-3p	Luciferase reporter assay	18311128
MIRT004248	hsa-miR-203a-3p	Luciferase reporter assay	18311128
MIRT022864	hsa-miR-124-3p	Microarray	18668037
MIRT004248	hsa-miR-203a-3p	Western blot	24247238
MIRT004248	hsa-miR-203a-3p	ELISA, qRT-PCR	23775225
MIRT437996	hsa-miR-301b-3p	qRT-PCR, Western blot	24398967
MIRT437996	hsa-miR-301b-3p	qRT-PCR, Western blot	24398967
MIRT652264	hsa-miR-4428	HITS-CLIP	23824327
MIRT652263	hsa-miR-3173-3p	HITS-CLIP	23824327
MIRT652262	hsa-miR-6891-5p	HITS-CLIP	23824327
MIRT652261	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT652260	hsa-miR-4477b	HITS-CLIP	23824327
MIRT652259	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT652258	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT652264	hsa-miR-4428	HITS-CLIP	23824327
MIRT652263	hsa-miR-3173-3p	HITS-CLIP	23824327
MIRT652262	hsa-miR-6891-5p	HITS-CLIP	23824327
MIRT652261	hsa-miR-1178-3p	HITS-CLIP	23824327
MIRT652260	hsa-miR-4477b	HITS-CLIP	23824327
MIRT652259	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT652258	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1448779	hsa-miR-1178	CLIP-seq
MIRT1448780	hsa-miR-1299	CLIP-seq
MIRT1448781	hsa-miR-1470	CLIP-seq
MIRT1448782	hsa-miR-204	CLIP-seq
MIRT1448783	hsa-miR-211	CLIP-seq
MIRT1448784	hsa-miR-298	CLIP-seq
MIRT1448785	hsa-miR-3143	CLIP-seq
MIRT1448786	hsa-miR-3156-3p	CLIP-seq
MIRT1448787	hsa-miR-3678-3p	CLIP-seq
MIRT1448788	hsa-miR-4282	CLIP-seq
MIRT1448789	hsa-miR-4301	CLIP-seq
MIRT1448790	hsa-miR-4446-5p	CLIP-seq
MIRT1448791	hsa-miR-4667-3p	CLIP-seq
MIRT1448792	hsa-miR-4720-3p	CLIP-seq
MIRT1448793	hsa-miR-4733-5p	CLIP-seq
MIRT1448794	hsa-miR-4753-3p	CLIP-seq
MIRT1448795	hsa-miR-4755-5p	CLIP-seq
MIRT1448796	hsa-miR-4782-5p	CLIP-seq
MIRT1448797	hsa-miR-4803	CLIP-seq
MIRT1448798	hsa-miR-516b	CLIP-seq
MIRT1448799	hsa-miR-520f	CLIP-seq
MIRT1448800	hsa-miR-548ae	CLIP-seq
MIRT1448801	hsa-miR-548aj	CLIP-seq
MIRT1448802	hsa-miR-548am	CLIP-seq
MIRT1448803	hsa-miR-548x	CLIP-seq
MIRT1448804	hsa-miR-556-3p	CLIP-seq
MIRT1448805	hsa-miR-582-5p	CLIP-seq
MIRT1448806	hsa-miR-590-3p	CLIP-seq
MIRT1448807	hsa-miR-605	CLIP-seq
MIRT1448808	hsa-miR-623	CLIP-seq
MIRT1448809	hsa-miR-642a	CLIP-seq
MIRT1448810	hsa-miR-875-3p	CLIP-seq
MIRT1448811	hsa-let-7a	CLIP-seq
MIRT1448812	hsa-let-7b	CLIP-seq
MIRT1448813	hsa-let-7c	CLIP-seq
MIRT1448814	hsa-let-7d	CLIP-seq
MIRT1448815	hsa-let-7e	CLIP-seq
MIRT1448816	hsa-let-7f	CLIP-seq
MIRT1448817	hsa-let-7g	CLIP-seq
MIRT1448818	hsa-let-7i	CLIP-seq
MIRT1448819	hsa-miR-1184	CLIP-seq
MIRT1448820	hsa-miR-1205	CLIP-seq
MIRT1448821	hsa-miR-1245b-3p	CLIP-seq
MIRT1448822	hsa-miR-1258	CLIP-seq
MIRT1448823	hsa-miR-1273f	CLIP-seq
MIRT1448824	hsa-miR-1276	CLIP-seq
MIRT1448825	hsa-miR-1301	CLIP-seq
MIRT1448826	hsa-miR-1323	CLIP-seq
MIRT1448827	hsa-miR-203	CLIP-seq
MIRT1448828	hsa-miR-2114	CLIP-seq
MIRT1448829	hsa-miR-216b	CLIP-seq
MIRT1448830	hsa-miR-3065-5p	CLIP-seq
MIRT1448831	hsa-miR-3115	CLIP-seq
MIRT1448832	hsa-miR-3132	CLIP-seq
MIRT1448833	hsa-miR-3144-5p	CLIP-seq
MIRT1448834	hsa-miR-3150b-3p	CLIP-seq
MIRT1448835	hsa-miR-3151	CLIP-seq
MIRT1448836	hsa-miR-3158-5p	CLIP-seq
MIRT1448837	hsa-miR-3163	CLIP-seq
MIRT1448838	hsa-miR-3191	CLIP-seq
MIRT1448839	hsa-miR-3194-3p	CLIP-seq
MIRT1448840	hsa-miR-331-5p	CLIP-seq
MIRT1448841	hsa-miR-340	CLIP-seq
MIRT1448842	hsa-miR-3622b-5p	CLIP-seq
MIRT1448843	hsa-miR-3649	CLIP-seq
MIRT1448844	hsa-miR-365	CLIP-seq
MIRT1448845	hsa-miR-3675-3p	CLIP-seq
MIRT1448846	hsa-miR-3688-3p	CLIP-seq
MIRT1448847	hsa-miR-3688-5p	CLIP-seq
MIRT1448848	hsa-miR-3908	CLIP-seq
MIRT1448849	hsa-miR-3929	CLIP-seq
MIRT1448850	hsa-miR-3936	CLIP-seq
MIRT1448851	hsa-miR-4311	CLIP-seq
MIRT1448852	hsa-miR-4313	CLIP-seq
MIRT1448853	hsa-miR-4419b	CLIP-seq
MIRT1448854	hsa-miR-4447	CLIP-seq
MIRT1448855	hsa-miR-4458	CLIP-seq
MIRT1448856	hsa-miR-4464	CLIP-seq
MIRT1448857	hsa-miR-4472	CLIP-seq
MIRT1448858	hsa-miR-4475	CLIP-seq
MIRT1448859	hsa-miR-4478	CLIP-seq
MIRT1448860	hsa-miR-4490	CLIP-seq
MIRT1448861	hsa-miR-4493	CLIP-seq
MIRT1448862	hsa-miR-4500	CLIP-seq
MIRT1448863	hsa-miR-4520a-3p	CLIP-seq
MIRT1448864	hsa-miR-4520b-3p	CLIP-seq
MIRT1448865	hsa-miR-4529-3p	CLIP-seq
MIRT1448866	hsa-miR-4652-5p	CLIP-seq
MIRT1448867	hsa-miR-4659a-5p	CLIP-seq
MIRT1448868	hsa-miR-4659b-5p	CLIP-seq
MIRT1448869	hsa-miR-4660	CLIP-seq
MIRT1448870	hsa-miR-4676-5p	CLIP-seq
MIRT1448871	hsa-miR-4689	CLIP-seq
MIRT1448872	hsa-miR-4694-3p	CLIP-seq
MIRT1448792	hsa-miR-4720-3p	CLIP-seq
MIRT1448873	hsa-miR-4744	CLIP-seq
MIRT1448874	hsa-miR-4748	CLIP-seq
MIRT1448794	hsa-miR-4753-3p	CLIP-seq
MIRT1448875	hsa-miR-4755-3p	CLIP-seq
MIRT1448876	hsa-miR-4769-3p	CLIP-seq
MIRT1448877	hsa-miR-4774-5p	CLIP-seq
MIRT1448878	hsa-miR-4784	CLIP-seq
MIRT1448879	hsa-miR-4796-5p	CLIP-seq
MIRT1448880	hsa-miR-485-3p	CLIP-seq
MIRT1448881	hsa-miR-491-5p	CLIP-seq
MIRT1448882	hsa-miR-5047	CLIP-seq
MIRT1448883	hsa-miR-513a-3p	CLIP-seq
MIRT1448884	hsa-miR-539	CLIP-seq
MIRT1448885	hsa-miR-548n	CLIP-seq
MIRT1448886	hsa-miR-548o	CLIP-seq
MIRT1448887	hsa-miR-548t	CLIP-seq
MIRT1448888	hsa-miR-550b	CLIP-seq
MIRT1448804	hsa-miR-556-3p	CLIP-seq
MIRT1448889	hsa-miR-575	CLIP-seq
MIRT1448890	hsa-miR-583	CLIP-seq
MIRT1448891	hsa-miR-888	CLIP-seq
MIRT1448892	hsa-miR-98	CLIP-seq
MIRT1448828	hsa-miR-2114	CLIP-seq
MIRT1448831	hsa-miR-3115	CLIP-seq
MIRT1448832	hsa-miR-3132	CLIP-seq
MIRT1448858	hsa-miR-4475	CLIP-seq
MIRT1448879	hsa-miR-4796-5p	CLIP-seq
MIRT1448781	hsa-miR-1470	CLIP-seq
MIRT2355523	hsa-miR-329	CLIP-seq
MIRT2355524	hsa-miR-362-3p	CLIP-seq
MIRT2355525	hsa-miR-3941	CLIP-seq
MIRT2355526	hsa-miR-4469	CLIP-seq
MIRT1448791	hsa-miR-4667-3p	CLIP-seq
MIRT2355527	hsa-miR-4789-3p	CLIP-seq
MIRT2355528	hsa-miR-603	CLIP-seq
MIRT1448781	hsa-miR-1470	CLIP-seq
MIRT1448782	hsa-miR-204	CLIP-seq
MIRT1448783	hsa-miR-211	CLIP-seq
MIRT1448790	hsa-miR-4446-5p	CLIP-seq
MIRT2462186	hsa-miR-4452	CLIP-seq
MIRT1448791	hsa-miR-4667-3p	CLIP-seq
MIRT1448795	hsa-miR-4755-5p	CLIP-seq
MIRT2462187	hsa-miR-520d-5p	CLIP-seq
MIRT2462188	hsa-miR-524-5p	CLIP-seq
MIRT1448800	hsa-miR-548ae	CLIP-seq
MIRT1448801	hsa-miR-548aj	CLIP-seq
MIRT1448802	hsa-miR-548am	CLIP-seq
MIRT1448803	hsa-miR-548x	CLIP-seq
MIRT1448808	hsa-miR-623	CLIP-seq
MIRT1448809	hsa-miR-642a	CLIP-seq
MIRT2649130	hsa-miR-548k	CLIP-seq
MIRT2649130	hsa-miR-548k	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	16241993
HDAC2	Unknown	21317427
SATB2	Repression	21965674
STAT3	Activation	18198175

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	22521434
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	28827783
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001738	Process	Morphogenesis of a polarized epithelium	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0002039	Function	P53 binding	IEA
GO:0002039	Function	P53 binding	IPI	25417702
GO:0002064	Process	Epithelial cell development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	9662346
GO:0003682	Function	Chromatin binding	IDA	20123734
GO:0003682	Function	Chromatin binding	IEA
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	25417702
GO:0005515	Function	Protein binding	IPI	11278685, 12692135, 14729977, 16908849, 18275817, 19345189, 19815500, 20085233, 20123734, 20559324, 20829881, 21602882, 21741598, 21988832, 22252508, 26112605, 32296183, 33961781, 34591642, 35044719
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10657951, 11106548, 12446779
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9774969
GO:0005654	Component	Nucleoplasm	IDA	20123734
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	10657951
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9662378
GO:0006974	Process	DNA damage response	IDA	19451233
GO:0006974	Process	DNA damage response	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007499	Process	Ectoderm and mesoderm interaction	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009913	Process	Epidermal cell differentiation	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0010481	Process	Epidermal cell division	IEA
GO:0010482	Process	Regulation of epidermal cell division	IEA
GO:0010482	Process	Regulation of epidermal cell division	ISS
GO:0010838	Process	Positive regulation of keratinocyte proliferation	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030850	Process	Prostate gland development	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030859	Process	Polarized epithelial cell differentiation	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IBA
GO:0042771	Process	Intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10373484, 12446779, 19815500, 21335238, 21464285
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043589	Process	Skin morphogenesis	IEA
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045617	Process	Negative regulation of keratinocyte differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	22521434
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	11641404
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12446784
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	12446784, 16343436
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	25417702
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	9774969
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20123734, 22521434, 28827783
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048807	Process	Female genitalia morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050699	Function	WW domain binding	IPI	19451233
GO:0051262	Process	Protein tetramerization	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060197	Process	Cloacal septation	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060529	Process	Squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0097371	Function	MDM2/MDM4 family protein binding	IEA
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	25417702
GO:0098773	Process	Skin epidermis development	IEA
GO:1902808	Process	Positive regulation of cell cycle G1/S phase transition	IMP	19451233
GO:1904674	Process	Positive regulation of somatic stem cell population maintenance	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IBA
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:2000271	Process	Positive regulation of fibroblast apoptotic process	IDA	9774969
GO:2000381	Process	Negative regulation of mesoderm development	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000773	Process	Negative regulation of cellular senescence	IMP	19451233
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 603273
• HGNC: 15979
• e!Ensembl: ENSG00000073282

Protein

• UniProt ID: Q9H3D4
• Protein name: Tumor protein 63 (p63) (Chronic ulcerative stomatitis protein) (CUSP) (Keratinocyte transcription factor KET) (Transformation-related protein 63) (TP63) (Tumor protein p73-like) (p73L) (p40) (p51)
• Protein function: Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 act
• PDB: 1RG6, 2NB1, 2RMN, 2Y9T, 2Y9U, 3QYM, 3QYN, 3US0, 3US1, 3US2, 3ZY0, 3ZY1, 4A9Z, 6FGN, 6RU6, 6RU7, 6RU8, 7Z71, 7Z72, 7Z73, 7Z7E, 8P9C, 8P9D, 8P9E, 9GFO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00870	P53	167 → 359	P53 DNA-binding domain	Domain
  PF07710	P53_tetramer	391 → 431	P53 tetramerisation motif	Motif
  PF07647	SAM_2	541 → 605	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, notably in heart, kidney, placenta, prostate, skeletal muscle, testis and thymus, although the precise isoform varies according to tissue type. Progenitor cell layers of skin, breast, eye and prostate express high lev
• Sequence:

  MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWD
  FLEQPICSVQPIDLNFVDEPSEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSM
  DQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVS
  FQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
  VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFT
  TVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIR
  KQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKES
  LELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQ
  LINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPP
  PPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKG
  ILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWND
  FNFDMDARRNKQQRIKEEGE

• Sequence length: 680

Pathways

KEGG:

MicroRNAs in cancer

Reactome:

Activation of PUMA and translocation to mitochondria
TP53 Regulates Metabolic Genes
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
TP53 Regulates Transcription of Caspase Activators and Caspases
TP53 Regulates Transcription of Death Receptors and Ligands
Regulation of TP53 Activity through Association with Co-factors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ADULT syndrome	Likely pathogenic; Pathogenic	rs2108864735, rs113993963, rs113993967, rs113993966, rs121908849	RCV003136064 RCV000006911 RCV000006914 RCV000006923 RCV000006926	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Pathogenic; Likely pathogenic	rs864621968, rs121908842, rs121908843, rs121908845, rs2474724873	RCV005208129 RCV000006909 RCV000006910 RCV000006918 RCV001794436	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Auditory neuropathy	Likely pathogenic	rs2474589841	RCV003484464	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	Likely pathogenic; Pathogenic	rs2108804508, rs1404019220, rs864621968, rs797044484, rs121908835, rs121908836, rs121908837, rs2108864810, rs121908839, rs121908840, rs121908841, rs121908844, rs121908849, rs2474609100, rs886041251, rs1553856553, rs1577195893, rs1205536026, rs774221257	RCV005638161 RCV001849646 RCV000206266 RCV000190455 RCV000006900 RCV000006901 RCV000006902 RCV000006903 RCV003162215 RCV000006906 RCV000006908 RCV000006915 RCV000006925 RCV003315466 RCV003152702 RCV000023290 RCV000851194 RCV000787270 RCV006252464 RCV000850386	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Furrowed tongue	Likely pathogenic	rs1028553870	RCV001810511	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-mammary syndrome	Pathogenic; Likely pathogenic	rs1721306735, rs2108864814, rs760967074, rs1560311554	RCV002274186 RCV000006912 RCV003985878 RCV003159544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with spermatogenesis disorder	Likely pathogenic	rs2474635268	RCV003991602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofacial cleft 8	Pathogenic	rs1560277554	RCV000710017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 21	Pathogenic	rs752080701, rs1051829008, rs2474713721, rs900140738, rs1560311010	RCV003159546 RCV003159547 RCV003159548 RCV003159542 RCV003159543	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Premature ovarian insufficiency	Pathogenic	rs752080701, rs1051829008, rs900140738, rs1560311010	RCV002291803 RCV002291804 RCV000766166 RCV000766167	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rapp-Hodgkin syndrome	Likely pathogenic; Pathogenic	rs2108801923, rs121908835, rs121908840, rs2108873431, rs2108874645, rs121908845, rs121908846, rs2108874029, rs2474724873, rs1577213466	RCV001809126 RCV002283440 RCV000006907 RCV000006916 RCV000006917 RCV000006919 RCV000006920 RCV000006927 RCV000006929 RCV000995905	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Split hand-foot malformation 4	Likely pathogenic; Pathogenic	rs2108801985, rs2108638585, rs121908836, rs121908838, rs121908839, rs121908841, rs886058222, rs1718026198	RCV001729984 RCV002244562 RCV002250454 RCV000006904 RCV000006905 RCV006261718 RCV003228727 RCV002290573	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TP63-related disorder	Likely pathogenic; Pathogenic	rs2108804508, rs2108873027, rs113993966, rs1553856553, rs2474609250, rs1057517841, rs1057520683, rs1205536026	RCV003407806 RCV003418299 RCV005230460 RCV003402493 RCV003420905 RCV003409575 RCV006270377 RCV003411777	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TP63-Related Spectrum Disorders	Pathogenic; Likely pathogenic	rs747009931, rs1721306735, rs2108806489, rs2108806204, rs2108864735, rs2108873176, rs2108804396, rs1057521750, rs2108874622, rs2108864831, rs2108636995, rs2108861558, rs121908849, rs2108873027, rs864621968, rs2474590664, rs886039442, rs1560310917, rs2474713823, rs121908835, rs121908836, rs121908839, rs121908840, rs121908841, rs121908843, rs113993967, rs886041251, rs2474589927, rs2474726412, rs2474609177, rs1057518399, rs1057517841, rs1553856553, rs113993965, rs1553857889, rs1553863660, rs1560274243, rs1560301690, rs1560204773, rs1560274283, rs1192374789, rs1057520664, rs1205536026, rs1577206350, rs1718026198	RCV001317802 RCV001324784 RCV001372592 RCV001382756 RCV001390109 RCV001836681 RCV001984339 RCV002000613 RCV002046983 RCV001973838 RCV001993140 RCV002007150 RCV001941997 RCV002003678 RCV001981050 RCV000821003 RCV002871011 RCV002853189 RCV003017834 RCV002982993 RCV000812084 RCV000705452 RCV002512857 RCV000548176 RCV000655484 RCV001067605 RCV000794231 RCV001390108 RCV002518757 RCV001050126 RCV003327327 RCV003592674 RCV003593294 RCV002523954 RCV000534217 RCV000695697 RCV000559680 RCV003593293 RCV000655483 RCV000655482 RCV000695736 RCV000699080 RCV000693615 RCV000692164 RCV000809190 RCV000807212 RCV000805973 RCV000805566 RCV001049615	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankyloblepharon filiforme adnatum-cleft palate syndrome	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC BLADDER EXSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip +/- Cleft Palate, Autosomal Dominant	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND CLEFT OF ALVEOLAR PROCESS OF MAXILLA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE WITH CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF SKIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FOOT DEFORMITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectrodactyly	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY-CLEFT LIP-PALATE SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE UROGENITAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NASOPHARYNGEAL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUDIGER SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC KERATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SKIN ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT HAND-FOOT MALFORMATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND-FOOT MALFORMATION 4	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 4	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWEAT GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TP63-related ectodermal dysplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
3-4 finger cutaneous syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	BEFREE	23408600		★☆☆☆☆ Found in Text Mining only
Acquired porencephaly	Acquired Porencephaly	BEFREE	16061602		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24481878		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11727253, 14562279, 14612504, 15551738, 16575619, 16884378, 20332665, 22071786, 22935826, 24166777, 24194854, 24879567, 25189640, 25982011, 26003479, 26317919, 27545006, 27889037, 28052061, 28298147, 28394798, 28417484, 28498881, 28593420, 28730709, 28859123, 29496309, 29761525, 29848682, 30718697, 31206846, 31653135, 31786484		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15389254, 15551738, 16575619, 16804722, 18432259		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	11727253		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20871597, 21610222, 22310392, 22367405, 24377560, 24879567, 24880342, 25189640, 25510918, 26469326, 26603857, 27501781		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	20871597, 22797724, 24880342, 27501781, 28604730		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	20871597, 22797724		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	24880342		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29894516		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	16445626		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	15529180		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	31653135		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25015728		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16575619		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26332336, 28403071, 31711519		★☆☆☆☆ Found in Text Mining only
ADULT SYNDROME	ADULT Syndrome	GENOMICS_ENGLAND_DG	11462173		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT SYNDROME	ADULT Syndrome	BEFREE	11528512, 11929852, 16114047, 16724007, 17041931, 18388131, 19781362, 20543567, 21078104, 21990121, 22607287, 23407076, 31420900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT SYNDROME	ADULT Syndrome	UNIPROT_DG	11929852		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT SYNDROME	ADULT Syndrome	ORPHANET_DG	17041931		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT syndrome	ADULT Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT SYNDROME	ADULT Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADULT SYNDROME	ADULT Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	29794791		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	15752257, 28390135, 30285997, 31187467		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	24350278, 28390135, 31187467	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	16546853, 22065540		★☆☆☆☆ Found in Text Mining only
Amyloidosis Primary Cutaneous	Amyloidosis	Pubtator	15389254	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	10594758		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	12234063		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	23271742		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	28545802, 29740819		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	31487386		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29880011		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	38115305	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22053213		★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	32224865	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	BEFREE	25209878		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31320700		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	31213383		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	18603493		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	18603493		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15988104		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16482511		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	30485184		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15007350, 23837456, 26315281		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23837456	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	24482479		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15988104		★☆☆☆☆ Found in Text Mining only
Atresia of nasolacrimal duct	Atresia Of Nasolacrimal Duct	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21646640, 28850053, 31342656		★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	25029093		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12838557, 16918993, 22496164, 24117128, 26332336, 31831043		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	11600462	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	11727253, 14562279, 21703447		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	17615180		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	12102658		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	12102658		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	18205865		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	22253920	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	BEFREE	21042780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy	Bladder Exstrophy	ORPHANET_DG	23284286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy	Bladder Exstrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy	Bladder Exstrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Exstrophy and Epispadias Complex	Bladder Exstrophy And Epispadias Complex	BEFREE	23913486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10910040, 12368193, 19843673, 21063684, 22253920, 22361733, 24213852, 24818791, 26695686, 28794159, 29956121, 30104251, 30643195		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	12368193, 17905096		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG	19903181		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Blepharoptosis	Pubtator	33933124	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	18626511	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12007564, 12653579, 14689049, 15365563, 15489655, 15849742, 17639392, 19173015, 20225093, 20552547, 23548208, 24316488, 26208975, 26330357, 27555661, 28258440, 28349272, 29484502, 31524947, 8895199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Diseases	Breast Diseases	CTD_human_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Diseases	Breast disease	Pubtator	24696720	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Diseases	Breast Diseases	BEFREE	8895199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	11462173, 12653579, 14689049, 15365563, 16398404, 17446929, 19173015, 19855377, 21110878, 23250869, 24068038, 26825981, 26840455, 31829259, 32350443, 32649310, 32856845, 35891769, 35906698, 36673982, 37643511, 37917911, 38115305	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20714441	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchial Diseases	Bronchial disease	Pubtator	37150829	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	LHGDN	18432259		★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	27545006		★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cancer of Neck	Neck Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10935472, 12379767, 14689049, 19517019, 19725154, 21511729, 21703418, 22076464, 23217540, 23229819, 23574722, 24732135, 25189640, 26878872, 27341130, 29559659, 29763931, 29880857, 30986748, 31789342, 32873880, 33369228, 33840043, 40091472	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15761962	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10897041, 10910040, 11358835, 11381365, 11592094, 11948487, 11956072, 12185332, 12358808, 14654529, 15183414, 15365563, 15489655, 15752257, 16445626, 17385050, 17460449, 20225093, 21765392, 22653804, 25015728, 25156441, 26330357, 26406948, 26988609, 27060708, 28236059, 30258209, 30986748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	Pubtator	21667345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	23271742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	15529180, 16810311, 19877114, 22963430, 26464669, 33172898, 36720951, 39230995	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	18752048, 35636508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	12653579, 32729306, 35906698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	12704442	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	35347751	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28350813, 32955083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	27584160	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	12461063, 12811858, 21286874	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	20808915, 23196793, 26456962	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	17599745, 21765392, 24225752	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	15001991, 23217538, 24743219, 26464669, 26575266, 27278378	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	12368193, 14654529, 21063684, 22253920, 22361733, 24213852, 24818791, 26695686, 28794159, 29956121, 30104251		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	15768819		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10935472, 14612504, 15466179, 19547694, 20332665, 21725308, 22071786, 22367405, 22441934, 24092572, 24466311, 25144241, 25566987, 25982011, 26575266, 27063419, 28449811, 29193083, 30096292, 30354850, 31426812		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	21725308, 23143601, 28604730, 31009812		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20463571, 25046342, 27031776	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	11336476, 12086851, 12379768, 15309021, 15529180, 15983384, 16413471, 16415794, 17348440, 19451233, 19517019, 19681903, 19744186, 20150431, 20808915, 21170261, 21586512, 21623236, 21623385, 21717589, 21980285, 21986160, 21986963, 22367405, 22631682, 22748473, 23196793, 23451093, 24228118, 24299561, 24327102, 24394434, 24460361, 24509874, 24590290, 24711443, 24732135, 25263756, 25884453, 26251276, 26456962, 26819410, 26864590, 26890356, 27584160, 27775076, 28052061, 28099906, 29162693, 29217659, 29866045, 30484070, 30710576, 30986748, 31221127, 31263838, 31735007, 32108138, 32170368, 32729306, 32843061, 32977822, 32993587, 33263276, 33906487, 34272396, 34517553, 35093316, 35982901, 36970727, 37132663, 37150829, 37778252, 38115305, 38291083, 38403668	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12946229, 25871623, 28258440	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11532371, 12102658, 12358808, 26068789, 31278765		★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	20871597		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	11381365		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11179485, 23095717		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	22071786, 24418859, 28821190		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	23271742		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30453078		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	22452794	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28374812		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28442357		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28113106, 28854881, 30249407, 30629983, 31213383		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16884378, 20442293, 24662128, 30137189, 30973901		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	24662128, 30137189		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	10568821, 20442293, 21980285, 24662128, 25779941, 30137189, 30973901, 31211485		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38012140	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	18192965	Associate	★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	21631272	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29441939		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	16979518, 30359635		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	16979518		★☆☆☆☆ Found in Text Mining only
Chronic irritative conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	21906144, 24117128, 30447004		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	11462173, 16740912, 23355676, 23355677, 23613309, 30566872, 31049400, 38281558, 39364398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	28054174, 29341488		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	15748593, 16740912, 22573176, 31049400, 31122291, 33622322, 37846594	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	20554868, 29728920		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22356855, 31010817		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11297235, 22155142		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	15875781		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16575619, 23784800, 30393117, 31056618		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	15875781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	16575619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16575619		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17848589, 23015401, 30700826, 31056618, 35891769, 40091472	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30700826	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Comedone	Comedone	BEFREE	23548208		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22573176	Associate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of Eustachian tube	Congenital Abnormality Of Eustachian Tube	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of breast	Breast aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of ovary	Aplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absent nipple	Congenital Absent Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	BEFREE	12692135, 12766194, 12932250, 16365259, 17164413, 19676058, 19681108, 21567929, 21965674, 22329826, 22607287, 22922031, 23407076, 27485918		★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12963965, 24893616, 31345272		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	CTD_human_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	11787035, 17915261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hand Deformities	Congenital anomaly of the hand	BEFREE	15736220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of thymus	Congenital Hypoplasia Of Thymus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	BEFREE	19139660		★☆☆☆☆ Found in Text Mining only
Congenital porencephaly	Congenital Porencephaly	BEFREE	16061602		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29716728		★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal Ulcer	CLINVAR_DG	19903181		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	15988104		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	27816171		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	18633439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniopharyngioma	Craniopharyngioma	BEFREE	20128632		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	26198262	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	30925220		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	11515847, 12424624, 17007011, 18830267, 24138637, 28365485, 29409871, 29846261, 29909019, 30060945, 30169620, 30563755, 30884245, 31327402, 31722356, 31828765, 9502407		★☆☆☆☆ Found in Text Mining only
Cryptophthalmos Unilateral or Bilateral Isolated	Cryptophthalmos syndrome	Pubtator	14656652	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28849221		★☆☆☆☆ Found in Text Mining only
Dacryocystitis	Dacryocystitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	30939080		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18276743, 29442026, 29880011		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	26633815		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28464009		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	28944854, 30178865		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	23555846	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29544684		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	11080718, 26768665, 27745907		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15248062		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	12037717, 22069181, 22574117, 23355676, 31413199		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	23355676, 31413199	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15988104		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15988104, 30506335		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38034011	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12424623, 15603869		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22855598, 26332336, 27030389, 28403071, 31711519		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	39529088	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22751441		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22751441	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	12185332, 20225093, 25810244		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	11474290, 12653579, 20225093, 25810244		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	12185332, 12653579		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	25029093		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	10839977, 11462173, 18633439, 19681152, 22056627, 22069181, 22075982, 23355676, 23355677, 23613309, 30566872, 31949132, 33933124, 35741818, 38281558, 39364398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	11879774, 11903230, 12766194, 15550149, 15725251, 16187309, 16546853, 16679535, 16691622, 16724007, 17164413, 17224651, 17609671, 18364388, 18603493, 19663851, 19676060, 20361935, 20410354, 21471985, 21567929, 21906144, 22069181, 22607287, 23407076, 23442358, 23463580, 23589895, 23613309, 24569166, 27838789, 29130604, 31420900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	16187309, 18603493, 18633439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal dysplasia ectrodactyly and macular dystrophy	Ectodermal dysplasia	Pubtator	15988026, 22056627	Associate	★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	BEFREE	10769197, 11012604, 11462173, 11595015, 11929852, 12164578, 12766194, 14656652, 14699611, 15232212, 15736220, 17041931, 19049519, 19663851, 20410354, 22069181, 22342398, 22607287, 23613309, 29130604, 30566872, 31420900		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ectrodactyly	Ectrodactyly	ORPHANET_DG	10839977		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ectrodactyly	Ectrodactyly	Pubtator	10839977, 11462173, 14656652, 22056627, 22069181, 23355676, 23355677, 23613309, 28539665, 30566872, 31413199, 31949132, 33126320, 33471964, 35831859, 38281558, 39364398	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ectrodactyly	Ectrodactyly	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	BEFREE	21652629, 23355676, 23355677, 23463580, 24569166, 28513979, 30566872		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	Ectrodactyly	ORPHANET_DG	21959367, 24734328		★☆☆☆☆ Found in Text Mining only
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	UNIPROT_DG	10535733, 10839977, 11462173, 12838557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	GENOMICS_ENGLAND_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	CLINVAR_DG	19903181, 26380986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	BEFREE	31420900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	11080718, 26768665, 27745907		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
EEC syndrome	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Endocrine Breast Diseases	Endocrine Breast Diseases	CTD_human_DG	11462173		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	22441934		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22441934, 28511869		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	22441934, 35347751	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35587747	Associate	★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	LHGDN	15001991		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	15001991	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28521083		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	17264681		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	20361935		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	20163722	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	11297235, 12447998, 19725154, 24718831		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	11297235, 12447998, 24718831		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19725154, 26176862	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15761962, 19725154, 27029934, 31638164	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	30285997		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	18769338		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	19840326		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	25256005		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28480888, 30235288		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female Urogenital Diseases	Female Urogenital Diseases	CTD_human_DG	16002989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroadenoma	Fibroadenoma	BEFREE	11474290, 15365563		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	18182067		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	7530025		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28325896		★☆☆☆☆ Found in Text Mining only
Fingernail dysplasia	Fingernail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	16979518		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	29731755		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	18192965, 18311114, 21631272, 21919814, 23016917, 23229819, 26202356, 28059095	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	LHGDN	18311114		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Tendon Sheath	Giant cell tumor of tendon sheath	Pubtator	21631272	Stimulate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28400699	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	28400699	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	28400699		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35658846, 36674747	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29396915		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis 46 XX	46, xx gonadal dysgenesis	Pubtator	39529088	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	16393253, 25846718		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23355676	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	BEFREE	15541764		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31722356		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	11159940, 12692135, 12766194, 12932250, 16177572, 16190990, 16258268, 16365259, 16532463, 16679535, 17910675, 18364388, 19353588, 19676060, 19681108, 19840326, 20491771, 20738799, 21615690, 21652629, 22247000, 22329826, 22607287, 22740388, 22922031, 23108156, 23407076, 23610050, 24460201, 24665072, 25645146, 27485918, 28513979, 29140732, 29339502, 31050217, 31420900		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	UNIPROT_DG	11159940		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	GENOMICS_ENGLAND_DG	11462173		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	CTD_human_DG	19239083, 19676059		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27034006, 31124563		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	22441934, 24418859, 27034006, 31124563, 32322564, 37946250	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28619364, 29322921		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29716728		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	22943673	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22497596		★☆☆☆☆ Found in Text Mining only
Hemoglobinopathies	Hemoglobinopathy	BEFREE	1655580		★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Types I and II	Hereditary angioedema	Pubtator	22441934	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16810311, 21076459, 26840455, 38281558	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	30558966		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	34057923	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28835126		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	15161025, 16869981, 35347751	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	36591850	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28985715		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CLINVAR_DG	19903181		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	31420900		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	BEFREE	30088137		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	19840326		★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG	19903181		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27036044	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	12379768		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	12379768, 26390052, 32857676	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12914676, 17498688		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	8656012		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20554868, 28464009, 29728920, 30506335, 31192971		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	11515847, 23573954, 28100093, 29754190, 29788053		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	20225093		★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	30116888		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28767629		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	12185332		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30235288		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28367640, 28603491, 30639178		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	30352393		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated split hand-split foot malformation	Isolated Split Hand-Split Foot Malformation	Orphanet			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	1357662, 9544843		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	BEFREE	23921950		★☆☆☆☆ Found in Text Mining only
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	31187467		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	BEFREE	28595997		★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	22808299	Associate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	28153507, 30719810, 31706671		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31574838	Associate	★☆☆☆☆ Found in Text Mining only
Lacrimal Puncta, Absence of	Absent lacrimal punctum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimoauriculodentodigital syndrome	Lacrimoauriculodentodigital Syndrome	BEFREE	28400699		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	25763351	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	12379767		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	23407076		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	10328110, 11358814, 20651304, 25340839, 28693141, 31474003		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	29962004	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35222588	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15329487	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27951730		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28429890		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	28346726		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	10227294		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	16691622, 16724007, 17041931, 17224651, 19676060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	11462173, 17164413, 17431922, 20410354, 23407076, 31420900		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	ORPHANET_DG	11462173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	GENOMICS_ENGLAND_DG	11462173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	CTD_human_DG	11462173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-mammary syndrome	Limb-Mammary Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	21959367, 28758321		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23725313		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10695992, 14578863, 20233581, 28350813		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31488173		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	11354544, 29779777		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	26819410	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10935472, 17925434, 19547694, 21610222, 22367405, 23228068, 24092572, 24466311, 24880342, 25045014, 25144241, 25566987, 26176862, 27063419, 28464886, 29117942, 29371906, 31204706, 33176817, 37150829	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	15551738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	20871597, 21725308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	10525320, 11014347, 30664357, 31342656		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	15761962, 21317878, 23095717	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26406948, 31056618	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	39364398	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16224147, 21418178, 22496164	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	22496164, 25510918, 26332336		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	16224147	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	15887287		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	12153001		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	12153001, 12838557		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	12153001, 12838557		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	17107393, 29794791		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23613309		★☆☆☆☆ Found in Text Mining only
Macrodontia	Macrodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	BEFREE	28968268		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27034006, 31124563		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	17115439		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	29048219		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10391684, 12007564, 15365563, 15849742, 17639392, 19173015, 21363924, 23250869, 24316488, 24525232, 25893299, 26208975, 26825981, 27555661, 28258440, 28349272, 29484502, 31524947, 8895199		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28511869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	11297235, 12447998, 24718831, 28258440		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10935472, 14612504, 15466179, 19547694, 20332665, 21725308, 22071786, 22367405, 22441934, 24092572, 24466311, 25144241, 25566987, 25982011, 27063419, 28449811, 29193083, 30096292, 30354850, 30718697, 31426812		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	20871597, 21725308		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	21725308, 23143601, 24880342		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23725313		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11179485, 21917857, 23095717		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	21266360		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	26098869		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29772221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10362802, 11956072, 12553000, 14607218, 18781151, 19142959, 22307076, 22949650, 26990571, 28510291, 29073075, 29241741, 29761525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11336476, 22249251, 31744230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11297235, 26406948, 29763931		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	12368193, 21063684, 22253920, 22361733, 24213852, 24818791, 26695686, 28794159, 29956121, 30104251, 30643195		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10203277, 10485447, 10618710, 10805802, 11179485, 11297235, 11336476, 12750249, 14654529, 14689049, 15095006, 15248062, 15280445, 15564824, 15990899, 16084953, 16359856, 16445626, 16462763, 16832836, 16861923, 16918993, 17264676, 17287142, 17395974, 17426453, 17992394, 18477895, 18801697, 19142959, 19754415, 20054805, 20298673, 20433688, 21127042, 21289519, 21363924, 21436470, 21442444, 21515338, 21741828, 21760596, 21917857, 22441934, 23344544, 24658133, 24718831, 24818791, 25409149, 25510918, 25726529, 26071105, 26374530, 26652033, 26784942, 27725202, 28468801, 28714958, 28756980, 28849221, 28915717, 29073075, 29180475, 29339502, 29441939, 29520104, 29588647, 29763931, 29879069, 30104251, 30211221, 31789342, 8895199		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	CTD_human_DG	23271742		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20442293, 24662128, 30137189, 30973901		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11297235, 22155142, 30700826		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	19142959		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23250869, 24316488, 25893299, 26840455		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	31831043		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	19536621		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	19536621		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	21623385	Associate	★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12429996, 21951600, 28849221		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21951600, 23420876	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	28849221, 34087900	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18203782		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28685243, 28855438		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Dominant 3	Intellectual developmental disorder	Pubtator	22069181	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	LHGDN	17599745		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	19400830, 21765392, 31809560		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	18064689		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29048219		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	31651339		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	37150829	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23725313, 35673812	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	LHGDN	15001991, 18971778		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	21777943, 24513264, 29975250		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	11553588		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic dysplastic kidney	Pubtator	32881366	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	BEFREE	31169683		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CTD_human_DG	21466819		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10516776, 15988104, 26000455		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24893616		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24893616	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	21269671, 27807867		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	24714674	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18813784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neck Neoplasms	Neck Neoplasms	BEFREE	15564824		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10391684, 10469295, 10568821, 10769197, 10897041, 11136565, 11179485, 11336476, 11358814, 11358835, 11358987, 11381365, 11532371, 11592094, 11595834, 11957139, 12234063, 12358808, 12368193, 12429996, 12434410, 12447998, 12838557, 12850476, 14654529, 14659698, 15033906, 15095006, 15183414, 15201986, 15221786, 15254416, 15489655, 15551738, 15564824, 15761962, 15781645, 16021638, 16359856, 16365259, 16462763, 16512680, 16575619, 16618715, 16687923, 16763609, 16823838, 16832836, 16885358, 17018588, 17224650, 17264676, 17297308, 17426453, 17639392, 17909026, 18192965, 18289041, 18348649, 18758480, 18832062, 19142959, 19173015, 19536621, 20054805, 20062014, 20074064, 20218739, 20543567, 21289519, 21515338, 21527555, 21577326, 21761340, 21765392, 21906144, 21941372, 21951666, 22253920, 22357254, 22573176, 22623071, 22631682, 22951905, 23250869, 23319821, 23344544, 23548208, 23681076, 24350278, 24732135, 24893616, 24901051, 25130377, 25285922, 25510918, 25531390, 25655427, 25710588, 25893299, 26032560, 26138851, 26406948, 26463566, 26990571, 27091942, 27282352, 27359057, 27391460, 27555661, 27634385, 27760825, 28110711, 28129571, 28212728, 28236059, 28350813, 28417484, 28423575, 28645102, 28774266, 28794159, 28808017, 28846747, 28942309, 28968268, 28975366, 29028127, 29180475, 29186361, 29307398, 29441939, 29475913, 29660202, 29672360, 30104251, 30216599, 30285997, 30910837, 30986748, 31056618, 31417937, 31491579, 31493739, 31548087, 31786484, 31789342, 9607416, 9614572		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19173015, 31132652		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30639178		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10769197, 20554868, 21063685, 22233765		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	38035110	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	11381365, 15551738, 28417484, 30354850		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28429890		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus sebaceous	Epidermal nevus syndrome	BEFREE	12102658		★☆☆☆☆ Found in Text Mining only
Nevus Sebaceus of Jadassohn	Epidermal nevus syndrome	BEFREE	12102658		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	GWASDB_DG	21423719		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	10391684, 14612504, 21289519, 22310392, 23064619, 23319821, 27258567, 28449811, 28730709, 29410129, 30798982, 31206846, 31614634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	12185332, 26330357, 26343330, 27060708, 28549030		★☆☆☆☆ Found in Text Mining only
NUT midline carcinoma	Carcinoma	BEFREE	26220994		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22441934	Associate	★☆☆☆☆ Found in Text Mining only
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Onychogryposis	Onychogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	19049519		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	GWASCAT_DG	28054174		★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	BEFREE	31420900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	23355676, 31049400, 33622322, 37350193, 38002937	Associate	★☆☆☆☆ Found in Text Mining only
OROFACIAL CLEFT 8	Orofacial Cleft	UNIPROT_DG	16740912		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OROFACIAL CLEFT 8	Orofacial Cleft	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oropharyngeal Dysphagia	Oropharyngeal Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	34903527	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	36089590, 38190960	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	21551338	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	17568187, 22623071, 25085524, 26463566		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21631272	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22623071, 23016917, 36389801	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30924587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	11179485, 16445626, 17880529, 23095717		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17880529, 17998283		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	21266360		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21799864, 21917857, 23095717	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	26098869, 29422604		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29772221		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	22053213, 30428345		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	26098869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26098869, 32729306, 37116169, 38115305	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26247532	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	20128632		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19493635, 25577570, 29201169		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	BEFREE	28198660, 30496189		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	35435392	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31192971		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30428345		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	15389254, 20190734	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	15620465		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	31025362		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22855598, 25189640		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	15489655, 28968268		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	15908262		★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	23278235		★☆☆☆☆ Found in Text Mining only
Porencephaly	Porencephaly	BEFREE	16061602		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29322921		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	27341130		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	22076464		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASDB_DG	22076464		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	31383950		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	30924587		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	23000144		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10362802, 11340630, 11956072, 12553000, 14607218, 18781151, 19142959, 22307076, 22949650, 26990571, 28510291, 29073075, 29241741		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic disease	Pubtator	17682568	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	17189982	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15205683, 17189982, 18415709, 19155438, 22901151, 23640976, 26784942, 28510291, 29761525, 30073682	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	19068396, 19142959		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19142959		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19142959	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35891769	Stimulate	★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16417229, 21373745, 23376980, 25354400, 28100093, 29544684, 30215632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	LHGDN	16417229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	14707118		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pterygium	Pterygium	BEFREE	19288018		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	28198660, 28985715, 29358674, 29763914, 31086273, 31573454		★☆☆☆☆ Found in Text Mining only
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	GENOMICS_ENGLAND_DG	11462173		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	BEFREE	12766194, 12939657, 15725251, 15807690, 16190990, 16532463, 18364388, 19676059, 19676060, 20491771, 21567929, 22342398, 31420900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	UNIPROT_DG	12766194, 12939657, 15200513		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	CTD_human_DG	15748593, 19239083, 19676059		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAPP-HODGKIN SYNDROME	RAPP-HODGKIN SYNDROME	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23158209		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	23660957		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	Pubtator	21623385	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21623385	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28129571		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11145021, 18276743, 26956410, 29880011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rudiger syndrome 1	Rudiger syndrome	BEFREE	10535733, 10839977, 11012604, 11159940, 11462173, 11903230, 11929852, 12161593, 15324320, 17041931, 17431922, 18603493, 19663851, 19903181, 20180707, 21652629, 21959367, 22056627, 22065614, 22607287, 23407076, 24569166, 26891374, 29477592, 29620206, 30566872, 31413199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rudiger syndrome 1	Rudiger syndrome	CTD_human_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rudiger syndrome 1	Rudiger syndrome	ORPHANET_DG	21959367, 24734328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Salivary Gland Neoplasms	Salivary gland neoplasm	BEFREE	16084953		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	23217538, 26464669	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	12946229, 21667345	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	15489655, 19898465, 29441939		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	37567448	Associate	★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	25989286	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	17426641, 30485184, 31009471, 31022152		★☆☆☆☆ Found in Text Mining only
Seborrheic keratosis	Seborrheic keratosis	BEFREE	12102658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	BEFREE	16979518, 30359635		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	16979518		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23589895		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINVAR_DG	19903181		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29130604		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	28545802		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	17425380	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	21655359	Associate	★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	21520071	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Erosion	Skin Erosion	BEFREE	19353643, 19681128		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11336476	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	33579235	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	16512680, 20332665, 25906121, 30957413, 31263838		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	27063419, 31263838	Associate	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	18192965		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	17984111	Associate	★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	BEFREE	11787035		★☆☆☆☆ 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	10769197, 11012604, 11462173, 11595015, 11929852, 12164578, 12766194, 14656652, 14699611, 15232212, 15736220, 17041931, 19049519, 19663851, 20410354, 22069181, 22342398, 22607287, 23613309, 29130604, 30566872, 31420900		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 3	Split-Hand-Foot Malformation	BEFREE	14699611		★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	UNIPROT_DG	10839977, 11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	GENOMICS_ENGLAND_DG	11462173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	BEFREE	16258268, 16861923, 22574117, 26117585, 31420900		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	11336476, 11531258, 11727253, 11957139, 12086851, 12102658, 12358808, 12447998, 12934112, 14562279, 14612504, 15183414, 15201986, 15551738, 16687923, 17018588, 17637751, 17909026, 19267405, 19391123, 19607727, 20332665, 20372069, 20442293, 20607803, 21170261, 21293058, 21527555, 21646640, 21741828, 22071786, 22356768, 22631682, 22690848, 24127607, 24166777, 24194854, 24590290, 24718831, 24732135, 25906121, 25982011, 26003479, 26068789, 26251276, 26317919, 26819410, 26973202, 27499003, 27889037, 28041841, 28099906, 28298147, 28645102, 28730709, 28756980, 29024544, 29186361, 29187465, 29217659, 29268512, 29454790, 29781860, 30190462, 30216599, 30337687, 30546464, 30798982, 30914778, 31144617, 31206846, 31221127, 31263838, 31366562, 31786484, 31845086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	11957139, 12379767, 14599865, 15201986, 15529180, 15551738, 18085379, 18194839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	CTD_human_DG	21527555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	12963965, 14562279, 15761962, 19725154, 27029934, 31560173		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12379767, 16413463, 16413471, 17418619, 18087216, 18418053, 20665144, 20959455, 21088498, 21170261, 21798893, 22096589, 22631682, 23235720, 23451093, 23738964, 24278325, 24675808, 25109877, 25929687, 26819410, 27036044, 28236344, 29053175, 29162693, 29377909, 29739791, 30594912, 31427592, 33527763, 33649777, 37946250	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25263756	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	21986963, 25994056, 29212036, 29496309, 31206846, 31551362		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of mouth	Oral cavity carcinoma	BEFREE	14997391		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	24417641		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12782800, 15201986, 15564824, 16273222, 16393253, 16885742, 17418619, 17935121, 18087216, 18418053, 19391123, 21088498, 21705376, 21798893, 23451093, 24675808, 25779941, 26808319, 28041841, 29053175, 29162693, 30910837		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	21705376		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of vulva	Carcinoma Of Vulva	BEFREE	27223861		★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	LHGDN	17018588		★☆☆☆☆ Found in Text Mining only
Squamous Cell Neoplasms	Neoplasm	CTD_human_DG	23271742		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30639357		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28480888, 28621331, 30235288		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11297235, 26406948, 29763931		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26176862, 26406948, 29763931, 32292506	Associate	★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft soft palate	Submucous cleft of soft and hard palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sweat Gland Neoplasms	Sweat Gland Neoplasms	CTD_human_DG	20740144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Syndactyly	BEFREE	17915261		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	33126320, 38281558	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ 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
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	10769197, 31557339		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	17880529		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	17880529, 30359635		★☆☆☆☆ Found in Text Mining only
Testicular Feminization	Testicular Feminization	BEFREE	11225909		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	30359635		★☆☆☆☆ Found in Text Mining only
Testicular Hydrocele	Testicular Hydrocele	BEFREE	29130604		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	LHGDN	17276940		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30924920	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	32146798	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	12234063, 16322335, 17395974		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	31050217, 33126320, 38281558	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	28488128		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15324320, 20180707		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	21252285, 22801492, 28349272, 29484502		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22427740, 29475913, 36017196	Associate	★☆☆☆☆ Found in Text Mining only
Tyrosine Transaminase Deficiency Disease	Tyrosinemia	BEFREE	1357662, 9544843		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11515847, 24138637, 30563755, 30884245		★☆☆☆☆ Found in Text Mining only
Ulnar-mammary syndrome	Ulnar-Mammary Syndrome	BEFREE	16114047		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11381365, 25902392		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	23271742		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	21567929, 21965674, 21990121, 28604778, 28803895		★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18794855, 19843673, 22253920, 22361733, 23239884, 24213852, 24241960, 24818791, 25109877, 25536625, 28488128, 29956121, 30643195, 31927310	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	23217538	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	27351625		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	14654529, 28088268, 31067463		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	17394499, 19690760, 24662128	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	28044307	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	11381365		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16804722, 16884378, 17582001, 19690760, 24662128, 25156441, 26071105, 29374145, 30018982, 30973901, 32843061, 33191407	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18182067		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	18477895, 27584665		★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	24227910	Associate	★☆☆☆☆ Found in Text Mining only
Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus	BEFREE	27223861		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	21623385	Associate	★☆☆☆☆ Found in Text Mining only