PTPN11 (protein tyrosine phosphatase non-receptor type 11)

Gene

• Entrez ID: 5781
• Gene name: Protein tyrosine phosphatase non-receptor type 11
• Gene symbol: PTPN11
• Synonyms (NCBI Gene): BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
• Chromosome: 12
• Chromosome location: 12q24.13
• Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933386	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338836	GTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs121918453	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121918454	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121918455	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs121918456	A>C,G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121918457	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918458	T>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918459	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918460	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs121918461	A>C,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121918462	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918463	T>A,C,G	Pathogenic	Coding sequence variant, missense variant
rs121918464	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121918465	A>C,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121918466	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918467	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918468	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918469	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121918470	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs139188627	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs141140214	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs143433437	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146749153	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs267606989	C>T	Pathogenic	Stop gained, coding sequence variant
rs369155025	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs372736227	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs376607329	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs387907157	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs387907158	A>T	Pathogenic	Stop gained, coding sequence variant
rs397507501	A>G	Pathogenic	Missense variant, coding sequence variant
rs397507502	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs397507503	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397507504	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507505	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs397507506	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507507	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs397507508	GTGA>T	Pathogenic	Inframe indel, coding sequence variant
rs397507509	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507510	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs397507511	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507512	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507513	A>C	Pathogenic	Missense variant, coding sequence variant
rs397507514	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs397507517	A>C	Pathogenic	Missense variant, coding sequence variant
rs397507518	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507519	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507520	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs397507523	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507524	ACA>-,ACAACA	Likely-pathogenic, uncertain-significance, pathogenic	Inframe insertion, coding sequence variant, inframe deletion
rs397507525	C>T	Pathogenic	Missense variant, coding sequence variant
rs397507526	T>A,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs397507527	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507529	A>G	Pathogenic	Missense variant, coding sequence variant
rs397507530	C>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507531	T>A,C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397507534	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs397507537	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507539	C>A,G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507540	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507541	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507542	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507543	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507544	C>T	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507545	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507546	G>A,C,T	Likely-pathogenic, other, pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507547	A>G	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507548	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507549	C>A,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397507550	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs397509345	AG>CC	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516801	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397516802	AC>CT	Pathogenic	Missense variant, coding sequence variant
rs397516803	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs397516806	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs397516807	A>-	Pathogenic	Stop gained, coding sequence variant
rs397516809	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs397516810	T>G	Pathogenic	Missense variant, coding sequence variant
rs398122857	GTACG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122858	CTGGTG>AAGAACACAGGGGAGAGCA	Pathogenic	Frameshift variant, coding sequence variant
rs398122859	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122860	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs398122861	A>C	Pathogenic	Splice acceptor variant
rs398122862	G>T	Pathogenic	Splice acceptor variant
rs727503380	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503381	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880994	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs765642157	T>A,G	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs777603059	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025574	GAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs886039463	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886039711	AC>GA	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041495	T>C	Pathogenic	Coding sequence variant, missense variant
rs923052172	C>T	Pathogenic	Coding sequence variant, stop gained
rs1052382672	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057517917	AT>GC	Pathogenic	Missense variant, coding sequence variant
rs1057517935	TG>AA	Pathogenic	Missense variant, coding sequence variant
rs1391791847	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1398859175	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555267558	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555270113	G>A	Pathogenic	Stop gained, coding sequence variant
rs1566164987	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1566168783	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1566186833	AG>CC	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1592847299	G>C	Likely-pathogenic	Splice acceptor variant
rs1592852902	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1592852978	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003549	hsa-miR-489-3p	Luciferase reporter assay, Western blot	20700123
MIRT003549	hsa-miR-489-3p	Luciferase reporter assay, Western blot	20700123
MIRT006482	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006482	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006482	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT006482	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	17382377
MIRT007150	hsa-miR-23a-3p	Luciferase reporter assay	23420868
MIRT022573	hsa-miR-124-3p	Microarray	18668037
MIRT024234	hsa-miR-218-5p	Sequencing	20371350
MIRT047153	hsa-miR-183-5p	CLASH	23622248
MIRT044548	hsa-miR-320a	CLASH	23622248
MIRT041308	hsa-miR-193b-3p	CLASH	23622248
MIRT038301	hsa-miR-130b-5p	CLASH	23622248
MIRT722999	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT722998	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT722997	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT722996	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT722995	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT722994	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT722993	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT616228	hsa-miR-548ac	HITS-CLIP	23824327
MIRT616227	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT616226	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT616225	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT616224	hsa-miR-548z	HITS-CLIP	23824327
MIRT616223	hsa-miR-548aa	HITS-CLIP	23824327
MIRT616222	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT616221	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT616220	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT003549	hsa-miR-489-3p	Luciferase reporter assay	26918448
MIRT003549	hsa-miR-489-3p	Luciferase reporter assay	26918448
MIRT003549	hsa-miR-489-3p	Luciferase reporter assay	26918448
MIRT732442	hsa-miR-505-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	33750466
MIRT722999	hsa-miR-6729-3p	HITS-CLIP	19536157
MIRT722998	hsa-miR-6793-3p	HITS-CLIP	19536157
MIRT722997	hsa-miR-6870-3p	HITS-CLIP	19536157
MIRT722996	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT722995	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT722994	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT722993	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT616228	hsa-miR-548ac	HITS-CLIP	23824327
MIRT616227	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT616226	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT616225	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT616224	hsa-miR-548z	HITS-CLIP	23824327
MIRT616223	hsa-miR-548aa	HITS-CLIP	23824327
MIRT616222	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT616221	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT616220	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT1274379	hsa-miR-10a	CLIP-seq
MIRT1274380	hsa-miR-10b	CLIP-seq
MIRT1274381	hsa-miR-1202	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT1274383	hsa-miR-1227	CLIP-seq
MIRT1274384	hsa-miR-1243	CLIP-seq
MIRT1274385	hsa-miR-1245	CLIP-seq
MIRT1274386	hsa-miR-1265	CLIP-seq
MIRT1274387	hsa-miR-1266	CLIP-seq
MIRT1274388	hsa-miR-1273	CLIP-seq
MIRT1274389	hsa-miR-1275	CLIP-seq
MIRT1274390	hsa-miR-1286	CLIP-seq
MIRT1274391	hsa-miR-129-5p	CLIP-seq
MIRT1274392	hsa-miR-1304	CLIP-seq
MIRT1274393	hsa-miR-136	CLIP-seq
MIRT1274394	hsa-miR-138	CLIP-seq
MIRT1274395	hsa-miR-141	CLIP-seq
MIRT1274396	hsa-miR-143	CLIP-seq
MIRT1274397	hsa-miR-147	CLIP-seq
MIRT1274398	hsa-miR-155	CLIP-seq
MIRT1274399	hsa-miR-185	CLIP-seq
MIRT1274400	hsa-miR-186	CLIP-seq
MIRT1274401	hsa-miR-1972	CLIP-seq
MIRT1274402	hsa-miR-200a	CLIP-seq
MIRT1274403	hsa-miR-200b	CLIP-seq
MIRT1274404	hsa-miR-200c	CLIP-seq
MIRT1274405	hsa-miR-2053	CLIP-seq
MIRT1274406	hsa-miR-208a	CLIP-seq
MIRT1274407	hsa-miR-208b	CLIP-seq
MIRT1274408	hsa-miR-216b	CLIP-seq
MIRT1274409	hsa-miR-217	CLIP-seq
MIRT1274410	hsa-miR-2355-5p	CLIP-seq
MIRT1274411	hsa-miR-2392	CLIP-seq
MIRT1274412	hsa-miR-24	CLIP-seq
MIRT1274413	hsa-miR-2467-5p	CLIP-seq
MIRT1274414	hsa-miR-298	CLIP-seq
MIRT1274415	hsa-miR-302a	CLIP-seq
MIRT1274416	hsa-miR-302b	CLIP-seq
MIRT1274417	hsa-miR-302c	CLIP-seq
MIRT1274418	hsa-miR-302d	CLIP-seq
MIRT1274419	hsa-miR-302e	CLIP-seq
MIRT1274420	hsa-miR-3117-5p	CLIP-seq
MIRT1274421	hsa-miR-3119	CLIP-seq
MIRT1274422	hsa-miR-3120-5p	CLIP-seq
MIRT1274423	hsa-miR-3122	CLIP-seq
MIRT1274424	hsa-miR-3127-5p	CLIP-seq
MIRT1274425	hsa-miR-3145-5p	CLIP-seq
MIRT1274426	hsa-miR-3148	CLIP-seq
MIRT1274427	hsa-miR-3152-5p	CLIP-seq
MIRT1274428	hsa-miR-3154	CLIP-seq
MIRT1274429	hsa-miR-3160-5p	CLIP-seq
MIRT1274430	hsa-miR-3173-3p	CLIP-seq
MIRT1274431	hsa-miR-3183	CLIP-seq
MIRT1274432	hsa-miR-3188	CLIP-seq
MIRT1274433	hsa-miR-3189-5p	CLIP-seq
MIRT1274434	hsa-miR-3194-5p	CLIP-seq
MIRT1274435	hsa-miR-320b	CLIP-seq
MIRT1274436	hsa-miR-320c	CLIP-seq
MIRT1274437	hsa-miR-320d	CLIP-seq
MIRT1274438	hsa-miR-323b-3p	CLIP-seq
MIRT1274439	hsa-miR-338-5p	CLIP-seq
MIRT1274440	hsa-miR-3545-3p	CLIP-seq
MIRT1274441	hsa-miR-3591-5p	CLIP-seq
MIRT1274442	hsa-miR-3606	CLIP-seq
MIRT1274443	hsa-miR-361-3p	CLIP-seq
MIRT1274444	hsa-miR-3614-3p	CLIP-seq
MIRT1274445	hsa-miR-3646	CLIP-seq
MIRT1274446	hsa-miR-3647-3p	CLIP-seq
MIRT1274447	hsa-miR-3654	CLIP-seq
MIRT1274448	hsa-miR-3657	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT1274450	hsa-miR-3674	CLIP-seq
MIRT1274451	hsa-miR-3679-3p	CLIP-seq
MIRT1274452	hsa-miR-3689d	CLIP-seq
MIRT1274453	hsa-miR-3691-3p	CLIP-seq
MIRT1274454	hsa-miR-369-3p	CLIP-seq
MIRT1274455	hsa-miR-372	CLIP-seq
MIRT1274456	hsa-miR-373	CLIP-seq
MIRT1274457	hsa-miR-374a	CLIP-seq
MIRT1274458	hsa-miR-374b	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274460	hsa-miR-376a	CLIP-seq
MIRT1274461	hsa-miR-376b	CLIP-seq
MIRT1274462	hsa-miR-3913-5p	CLIP-seq
MIRT1274463	hsa-miR-3915	CLIP-seq
MIRT1274464	hsa-miR-3918	CLIP-seq
MIRT1274465	hsa-miR-3928	CLIP-seq
MIRT1274466	hsa-miR-3942-3p	CLIP-seq
MIRT1274467	hsa-miR-3972	CLIP-seq
MIRT1274468	hsa-miR-3973	CLIP-seq
MIRT1274469	hsa-miR-3975	CLIP-seq
MIRT1274470	hsa-miR-412	CLIP-seq
MIRT1274471	hsa-miR-421	CLIP-seq
MIRT1274472	hsa-miR-4252	CLIP-seq
MIRT1274473	hsa-miR-4264	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT1274475	hsa-miR-429	CLIP-seq
MIRT1274476	hsa-miR-4297	CLIP-seq
MIRT1274477	hsa-miR-4306	CLIP-seq
MIRT1274478	hsa-miR-4311	CLIP-seq
MIRT1274479	hsa-miR-4312	CLIP-seq
MIRT1274480	hsa-miR-4328	CLIP-seq
MIRT1274481	hsa-miR-4418	CLIP-seq
MIRT1274482	hsa-miR-4429	CLIP-seq
MIRT1274483	hsa-miR-4432	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274485	hsa-miR-4447	CLIP-seq
MIRT1274486	hsa-miR-4450	CLIP-seq
MIRT1274487	hsa-miR-4457	CLIP-seq
MIRT1274488	hsa-miR-4470	CLIP-seq
MIRT1274489	hsa-miR-4472	CLIP-seq
MIRT1274490	hsa-miR-4475	CLIP-seq
MIRT1274491	hsa-miR-4477a	CLIP-seq
MIRT1274492	hsa-miR-4488	CLIP-seq
MIRT1274493	hsa-miR-4490	CLIP-seq
MIRT1274494	hsa-miR-4503	CLIP-seq
MIRT1274495	hsa-miR-450b-3p	CLIP-seq
MIRT1274496	hsa-miR-4514	CLIP-seq
MIRT1274497	hsa-miR-4518	CLIP-seq
MIRT1274498	hsa-miR-4519	CLIP-seq
MIRT1274499	hsa-miR-455-5p	CLIP-seq
MIRT1274500	hsa-miR-4635	CLIP-seq
MIRT1274501	hsa-miR-4638-3p	CLIP-seq
MIRT1274502	hsa-miR-4641	CLIP-seq
MIRT1274503	hsa-miR-4644	CLIP-seq
MIRT1274504	hsa-miR-4651	CLIP-seq
MIRT1274505	hsa-miR-4656	CLIP-seq
MIRT1274506	hsa-miR-4665-5p	CLIP-seq
MIRT1274507	hsa-miR-4666-3p	CLIP-seq
MIRT1274508	hsa-miR-4666-5p	CLIP-seq
MIRT1274509	hsa-miR-4667-5p	CLIP-seq
MIRT1274510	hsa-miR-4692	CLIP-seq
MIRT1274511	hsa-miR-4695-5p	CLIP-seq
MIRT1274512	hsa-miR-4697-5p	CLIP-seq
MIRT1274513	hsa-miR-4700-5p	CLIP-seq
MIRT1274514	hsa-miR-4703-3p	CLIP-seq
MIRT1274515	hsa-miR-4704-3p	CLIP-seq
MIRT1274516	hsa-miR-4709-5p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274518	hsa-miR-4717-5p	CLIP-seq
MIRT1274519	hsa-miR-4722-3p	CLIP-seq
MIRT1274520	hsa-miR-4722-5p	CLIP-seq
MIRT1274521	hsa-miR-4723-3p	CLIP-seq
MIRT1274522	hsa-miR-4724-3p	CLIP-seq
MIRT1274523	hsa-miR-4735-5p	CLIP-seq
MIRT1274524	hsa-miR-4742-5p	CLIP-seq
MIRT1274525	hsa-miR-4755-3p	CLIP-seq
MIRT1274526	hsa-miR-4756-3p	CLIP-seq
MIRT1274527	hsa-miR-4758-3p	CLIP-seq
MIRT1274528	hsa-miR-4766-5p	CLIP-seq
MIRT1274529	hsa-miR-4770	CLIP-seq
MIRT1274530	hsa-miR-4774-3p	CLIP-seq
MIRT1274531	hsa-miR-4774-5p	CLIP-seq
MIRT1274532	hsa-miR-4775	CLIP-seq
MIRT1274533	hsa-miR-4778-5p	CLIP-seq
MIRT1274534	hsa-miR-4793-3p	CLIP-seq
MIRT1274535	hsa-miR-4797-3p	CLIP-seq
MIRT1274536	hsa-miR-485-5p	CLIP-seq
MIRT1274537	hsa-miR-494	CLIP-seq
MIRT1274538	hsa-miR-499-5p	CLIP-seq
MIRT1274539	hsa-miR-505	CLIP-seq
MIRT1274540	hsa-miR-509-3-5p	CLIP-seq
MIRT1274541	hsa-miR-509-5p	CLIP-seq
MIRT1274542	hsa-miR-512-3p	CLIP-seq
MIRT1274543	hsa-miR-513b	CLIP-seq
MIRT1274544	hsa-miR-515-5p	CLIP-seq
MIRT1274545	hsa-miR-520a-3p	CLIP-seq
MIRT1274546	hsa-miR-520b	CLIP-seq
MIRT1274547	hsa-miR-520c-3p	CLIP-seq
MIRT1274548	hsa-miR-520d-3p	CLIP-seq
MIRT1274549	hsa-miR-520d-5p	CLIP-seq
MIRT1274550	hsa-miR-520e	CLIP-seq
MIRT1274551	hsa-miR-520g	CLIP-seq
MIRT1274552	hsa-miR-520h	CLIP-seq
MIRT1274553	hsa-miR-522	CLIP-seq
MIRT1274554	hsa-miR-524-5p	CLIP-seq
MIRT1274555	hsa-miR-545	CLIP-seq
MIRT1274556	hsa-miR-548a-3p	CLIP-seq
MIRT1274557	hsa-miR-548an	CLIP-seq
MIRT1274558	hsa-miR-548e	CLIP-seq
MIRT1274559	hsa-miR-548f	CLIP-seq
MIRT1274560	hsa-miR-554	CLIP-seq
MIRT1274561	hsa-miR-561	CLIP-seq
MIRT1274562	hsa-miR-568	CLIP-seq
MIRT1274563	hsa-miR-569	CLIP-seq
MIRT1274564	hsa-miR-570	CLIP-seq
MIRT1274565	hsa-miR-581	CLIP-seq
MIRT1274566	hsa-miR-582-5p	CLIP-seq
MIRT1274567	hsa-miR-590-3p	CLIP-seq
MIRT1274568	hsa-miR-591	CLIP-seq
MIRT1274569	hsa-miR-601	CLIP-seq
MIRT1274570	hsa-miR-603	CLIP-seq
MIRT1274571	hsa-miR-608	CLIP-seq
MIRT1274572	hsa-miR-621	CLIP-seq
MIRT1274573	hsa-miR-637	CLIP-seq
MIRT1274574	hsa-miR-640	CLIP-seq
MIRT1274575	hsa-miR-651	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT1274577	hsa-miR-769-3p	CLIP-seq
MIRT1274578	hsa-miR-873	CLIP-seq
MIRT1274579	hsa-miR-892b	CLIP-seq
MIRT1274580	hsa-miR-921	CLIP-seq
MIRT1274581	hsa-miR-944	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1556870	hsa-miR-518a-5p	CLIP-seq
MIRT1556871	hsa-miR-527	CLIP-seq
MIRT1274564	hsa-miR-570	CLIP-seq
MIRT2080628	hsa-miR-105	CLIP-seq
MIRT1274379	hsa-miR-10a	CLIP-seq
MIRT1274380	hsa-miR-10b	CLIP-seq
MIRT2080629	hsa-miR-1179	CLIP-seq
MIRT1274381	hsa-miR-1202	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT2080630	hsa-miR-1228	CLIP-seq
MIRT2080631	hsa-miR-1229	CLIP-seq
MIRT1274386	hsa-miR-1265	CLIP-seq
MIRT1274387	hsa-miR-1266	CLIP-seq
MIRT1274389	hsa-miR-1275	CLIP-seq
MIRT2080632	hsa-miR-1288	CLIP-seq
MIRT2080633	hsa-miR-1291	CLIP-seq
MIRT1274391	hsa-miR-129-5p	CLIP-seq
MIRT2080634	hsa-miR-1299	CLIP-seq
MIRT1274392	hsa-miR-1304	CLIP-seq
MIRT2080635	hsa-miR-1321	CLIP-seq
MIRT2080636	hsa-miR-1323	CLIP-seq
MIRT2080637	hsa-miR-134	CLIP-seq
MIRT1274394	hsa-miR-138	CLIP-seq
MIRT1274395	hsa-miR-141	CLIP-seq
MIRT1274396	hsa-miR-143	CLIP-seq
MIRT1274397	hsa-miR-147	CLIP-seq
MIRT2080638	hsa-miR-183	CLIP-seq
MIRT1274399	hsa-miR-185	CLIP-seq
MIRT1274400	hsa-miR-186	CLIP-seq
MIRT2080639	hsa-miR-196a	CLIP-seq
MIRT2080640	hsa-miR-196b	CLIP-seq
MIRT1274401	hsa-miR-1972	CLIP-seq
MIRT1274402	hsa-miR-200a	CLIP-seq
MIRT1274403	hsa-miR-200b	CLIP-seq
MIRT1274404	hsa-miR-200c	CLIP-seq
MIRT2080641	hsa-miR-2116	CLIP-seq
MIRT2080642	hsa-miR-223	CLIP-seq
MIRT1274411	hsa-miR-2392	CLIP-seq
MIRT2080643	hsa-miR-23a	CLIP-seq
MIRT2080644	hsa-miR-23b	CLIP-seq
MIRT2080645	hsa-miR-23c	CLIP-seq
MIRT1274413	hsa-miR-2467-5p	CLIP-seq
MIRT2080646	hsa-miR-2909	CLIP-seq
MIRT2080647	hsa-miR-300	CLIP-seq
MIRT2080648	hsa-miR-3065-5p	CLIP-seq
MIRT1274420	hsa-miR-3117-5p	CLIP-seq
MIRT2080649	hsa-miR-3118	CLIP-seq
MIRT2080650	hsa-miR-3120-3p	CLIP-seq
MIRT2080651	hsa-miR-3121-3p	CLIP-seq
MIRT1274423	hsa-miR-3122	CLIP-seq
MIRT2080652	hsa-miR-3140-3p	CLIP-seq
MIRT2080653	hsa-miR-3145-3p	CLIP-seq
MIRT1274427	hsa-miR-3152-5p	CLIP-seq
MIRT1274428	hsa-miR-3154	CLIP-seq
MIRT2080654	hsa-miR-3160-3p	CLIP-seq
MIRT2080655	hsa-miR-3162-5p	CLIP-seq
MIRT2080656	hsa-miR-3163	CLIP-seq
MIRT2080657	hsa-miR-3164	CLIP-seq
MIRT2080658	hsa-miR-3169	CLIP-seq
MIRT1274430	hsa-miR-3173-3p	CLIP-seq
MIRT2080659	hsa-miR-3176	CLIP-seq
MIRT2080660	hsa-miR-3178	CLIP-seq
MIRT2080661	hsa-miR-3182	CLIP-seq
MIRT1274431	hsa-miR-3183	CLIP-seq
MIRT2080662	hsa-miR-3185	CLIP-seq
MIRT2080663	hsa-miR-3187-3p	CLIP-seq
MIRT1274432	hsa-miR-3188	CLIP-seq
MIRT2080664	hsa-miR-3189-3p	CLIP-seq
MIRT2080665	hsa-miR-3194-3p	CLIP-seq
MIRT1274434	hsa-miR-3194-5p	CLIP-seq
MIRT2080666	hsa-miR-3200-5p	CLIP-seq
MIRT2080667	hsa-miR-328	CLIP-seq
MIRT2080668	hsa-miR-330-3p	CLIP-seq
MIRT2080669	hsa-miR-345	CLIP-seq
MIRT1274440	hsa-miR-3545-3p	CLIP-seq
MIRT2080670	hsa-miR-3607-5p	CLIP-seq
MIRT1274444	hsa-miR-3614-3p	CLIP-seq
MIRT2080671	hsa-miR-362-5p	CLIP-seq
MIRT1274445	hsa-miR-3646	CLIP-seq
MIRT2080672	hsa-miR-3653	CLIP-seq
MIRT1274447	hsa-miR-3654	CLIP-seq
MIRT2080673	hsa-miR-3658	CLIP-seq
MIRT2080674	hsa-miR-3660	CLIP-seq
MIRT2080675	hsa-miR-3662	CLIP-seq
MIRT2080676	hsa-miR-3664-3p	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT2080677	hsa-miR-3667-3p	CLIP-seq
MIRT2080678	hsa-miR-3670	CLIP-seq
MIRT2080679	hsa-miR-3671	CLIP-seq
MIRT2080680	hsa-miR-3677-5p	CLIP-seq
MIRT2080681	hsa-miR-3689a-3p	CLIP-seq
MIRT2080682	hsa-miR-3689c	CLIP-seq
MIRT1274452	hsa-miR-3689d	CLIP-seq
MIRT2080683	hsa-miR-3692	CLIP-seq
MIRT1274454	hsa-miR-369-3p	CLIP-seq
MIRT2080684	hsa-miR-370	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274460	hsa-miR-376a	CLIP-seq
MIRT1274461	hsa-miR-376b	CLIP-seq
MIRT2080685	hsa-miR-378	CLIP-seq
MIRT2080686	hsa-miR-378b	CLIP-seq
MIRT2080687	hsa-miR-378c	CLIP-seq
MIRT2080688	hsa-miR-378d	CLIP-seq
MIRT2080689	hsa-miR-378e	CLIP-seq
MIRT2080690	hsa-miR-378f	CLIP-seq
MIRT2080691	hsa-miR-378g	CLIP-seq
MIRT2080692	hsa-miR-378h	CLIP-seq
MIRT2080693	hsa-miR-378i	CLIP-seq
MIRT2080694	hsa-miR-381	CLIP-seq
MIRT2080695	hsa-miR-3913-3p	CLIP-seq
MIRT1274462	hsa-miR-3913-5p	CLIP-seq
MIRT2080696	hsa-miR-3920	CLIP-seq
MIRT2080697	hsa-miR-3921	CLIP-seq
MIRT2080698	hsa-miR-3922-3p	CLIP-seq
MIRT2080699	hsa-miR-3926	CLIP-seq
MIRT1274466	hsa-miR-3942-3p	CLIP-seq
MIRT1274467	hsa-miR-3972	CLIP-seq
MIRT1274468	hsa-miR-3973	CLIP-seq
MIRT2080700	hsa-miR-3974	CLIP-seq
MIRT1274469	hsa-miR-3975	CLIP-seq
MIRT2080701	hsa-miR-409-3p	CLIP-seq
MIRT1274470	hsa-miR-412	CLIP-seq
MIRT2080702	hsa-miR-422a	CLIP-seq
MIRT1274472	hsa-miR-4252	CLIP-seq
MIRT2080703	hsa-miR-4256	CLIP-seq
MIRT2080704	hsa-miR-4263	CLIP-seq
MIRT2080705	hsa-miR-4269	CLIP-seq
MIRT2080706	hsa-miR-4270	CLIP-seq
MIRT2080707	hsa-miR-4272	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT1274475	hsa-miR-429	CLIP-seq
MIRT2080708	hsa-miR-4292	CLIP-seq
MIRT1274476	hsa-miR-4297	CLIP-seq
MIRT2080709	hsa-miR-4299	CLIP-seq
MIRT2080710	hsa-miR-4300	CLIP-seq
MIRT2080711	hsa-miR-4303	CLIP-seq
MIRT1274477	hsa-miR-4306	CLIP-seq
MIRT2080712	hsa-miR-4310	CLIP-seq
MIRT1274478	hsa-miR-4311	CLIP-seq
MIRT1274479	hsa-miR-4312	CLIP-seq
MIRT1274481	hsa-miR-4418	CLIP-seq
MIRT2080713	hsa-miR-4428	CLIP-seq
MIRT2080714	hsa-miR-4434	CLIP-seq
MIRT2080715	hsa-miR-4435	CLIP-seq
MIRT2080716	hsa-miR-4436a	CLIP-seq
MIRT2080717	hsa-miR-4441	CLIP-seq
MIRT2080718	hsa-miR-4446-3p	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274485	hsa-miR-4447	CLIP-seq
MIRT1274488	hsa-miR-4470	CLIP-seq
MIRT1274489	hsa-miR-4472	CLIP-seq
MIRT2080719	hsa-miR-4474-5p	CLIP-seq
MIRT1274490	hsa-miR-4475	CLIP-seq
MIRT1274491	hsa-miR-4477a	CLIP-seq
MIRT2080720	hsa-miR-4486	CLIP-seq
MIRT2080721	hsa-miR-4487	CLIP-seq
MIRT1274492	hsa-miR-4488	CLIP-seq
MIRT2080722	hsa-miR-4493	CLIP-seq
MIRT1274494	hsa-miR-4503	CLIP-seq
MIRT2080723	hsa-miR-4504	CLIP-seq
MIRT1274495	hsa-miR-450b-3p	CLIP-seq
MIRT2080724	hsa-miR-450b-5p	CLIP-seq
MIRT2080725	hsa-miR-4511	CLIP-seq
MIRT1274496	hsa-miR-4514	CLIP-seq
MIRT2080726	hsa-miR-4516	CLIP-seq
MIRT1274497	hsa-miR-4518	CLIP-seq
MIRT1274498	hsa-miR-4519	CLIP-seq
MIRT2080727	hsa-miR-4526	CLIP-seq
MIRT2080728	hsa-miR-4531	CLIP-seq
MIRT1274500	hsa-miR-4635	CLIP-seq
MIRT1274501	hsa-miR-4638-3p	CLIP-seq
MIRT2080729	hsa-miR-4639-5p	CLIP-seq
MIRT1274503	hsa-miR-4644	CLIP-seq
MIRT2080730	hsa-miR-4645-3p	CLIP-seq
MIRT2080731	hsa-miR-4650-5p	CLIP-seq
MIRT1274504	hsa-miR-4651	CLIP-seq
MIRT2080732	hsa-miR-4653-5p	CLIP-seq
MIRT1274505	hsa-miR-4656	CLIP-seq
MIRT2080733	hsa-miR-4662a-5p	CLIP-seq
MIRT1274506	hsa-miR-4665-5p	CLIP-seq
MIRT1274507	hsa-miR-4666-3p	CLIP-seq
MIRT1274508	hsa-miR-4666-5p	CLIP-seq
MIRT2080734	hsa-miR-4668-3p	CLIP-seq
MIRT2080735	hsa-miR-4677-5p	CLIP-seq
MIRT2080736	hsa-miR-4678	CLIP-seq
MIRT2080737	hsa-miR-4684-3p	CLIP-seq
MIRT2080738	hsa-miR-4685-5p	CLIP-seq
MIRT1274510	hsa-miR-4692	CLIP-seq
MIRT2080739	hsa-miR-4694-3p	CLIP-seq
MIRT1274511	hsa-miR-4695-5p	CLIP-seq
MIRT2080740	hsa-miR-4697-3p	CLIP-seq
MIRT1274512	hsa-miR-4697-5p	CLIP-seq
MIRT2080741	hsa-miR-4698	CLIP-seq
MIRT2080742	hsa-miR-4701-5p	CLIP-seq
MIRT2080743	hsa-miR-4713-3p	CLIP-seq
MIRT2080744	hsa-miR-4714-3p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274518	hsa-miR-4717-5p	CLIP-seq
MIRT2080745	hsa-miR-4719	CLIP-seq
MIRT1274519	hsa-miR-4722-3p	CLIP-seq
MIRT1274521	hsa-miR-4723-3p	CLIP-seq
MIRT1274522	hsa-miR-4724-3p	CLIP-seq
MIRT2080746	hsa-miR-4733-3p	CLIP-seq
MIRT2080747	hsa-miR-4736	CLIP-seq
MIRT2080748	hsa-miR-4739	CLIP-seq
MIRT1274524	hsa-miR-4742-5p	CLIP-seq
MIRT2080749	hsa-miR-4753-3p	CLIP-seq
MIRT1274525	hsa-miR-4755-3p	CLIP-seq
MIRT2080750	hsa-miR-4756-5p	CLIP-seq
MIRT2080751	hsa-miR-4760-3p	CLIP-seq
MIRT2080752	hsa-miR-4762-3p	CLIP-seq
MIRT1274528	hsa-miR-4766-5p	CLIP-seq
MIRT1274529	hsa-miR-4770	CLIP-seq
MIRT2080753	hsa-miR-4773	CLIP-seq
MIRT1274530	hsa-miR-4774-3p	CLIP-seq
MIRT1274532	hsa-miR-4775	CLIP-seq
MIRT2080754	hsa-miR-4778-3p	CLIP-seq
MIRT2080755	hsa-miR-4782-5p	CLIP-seq
MIRT2080756	hsa-miR-4789-5p	CLIP-seq
MIRT2080757	hsa-miR-4799-5p	CLIP-seq
MIRT1274536	hsa-miR-485-5p	CLIP-seq
MIRT2080758	hsa-miR-489	CLIP-seq
MIRT2080759	hsa-miR-495	CLIP-seq
MIRT2080760	hsa-miR-500b	CLIP-seq
MIRT2080761	hsa-miR-501-5p	CLIP-seq
MIRT1274540	hsa-miR-509-3-5p	CLIP-seq
MIRT1274541	hsa-miR-509-5p	CLIP-seq
MIRT2080762	hsa-miR-510	CLIP-seq
MIRT2080763	hsa-miR-513c	CLIP-seq
MIRT2080764	hsa-miR-514b-5p	CLIP-seq
MIRT2080765	hsa-miR-516b	CLIP-seq
MIRT1556870	hsa-miR-518a-5p	CLIP-seq
MIRT1274551	hsa-miR-520g	CLIP-seq
MIRT1274552	hsa-miR-520h	CLIP-seq
MIRT1274553	hsa-miR-522	CLIP-seq
MIRT2080766	hsa-miR-526b	CLIP-seq
MIRT1556871	hsa-miR-527	CLIP-seq
MIRT2080767	hsa-miR-542-3p	CLIP-seq
MIRT2080768	hsa-miR-544	CLIP-seq
MIRT1274555	hsa-miR-545	CLIP-seq
MIRT1274556	hsa-miR-548a-3p	CLIP-seq
MIRT1274557	hsa-miR-548an	CLIP-seq
MIRT2080769	hsa-miR-548b-3p	CLIP-seq
MIRT1274558	hsa-miR-548e	CLIP-seq
MIRT1274559	hsa-miR-548f	CLIP-seq
MIRT2080770	hsa-miR-548m	CLIP-seq
MIRT2080771	hsa-miR-548o	CLIP-seq
MIRT2080772	hsa-miR-548p	CLIP-seq
MIRT2080773	hsa-miR-548s	CLIP-seq
MIRT2080774	hsa-miR-548u	CLIP-seq
MIRT1274560	hsa-miR-554	CLIP-seq
MIRT2080775	hsa-miR-556-3p	CLIP-seq
MIRT2080776	hsa-miR-558	CLIP-seq
MIRT1274561	hsa-miR-561	CLIP-seq
MIRT2080777	hsa-miR-576-5p	CLIP-seq
MIRT2080778	hsa-miR-578	CLIP-seq
MIRT2080779	hsa-miR-579	CLIP-seq
MIRT2080780	hsa-miR-580	CLIP-seq
MIRT1274565	hsa-miR-581	CLIP-seq
MIRT2080781	hsa-miR-587	CLIP-seq
MIRT2080782	hsa-miR-588	CLIP-seq
MIRT1274567	hsa-miR-590-3p	CLIP-seq
MIRT1274568	hsa-miR-591	CLIP-seq
MIRT1274569	hsa-miR-601	CLIP-seq
MIRT1274570	hsa-miR-603	CLIP-seq
MIRT2080783	hsa-miR-607	CLIP-seq
MIRT1274571	hsa-miR-608	CLIP-seq
MIRT2080784	hsa-miR-616	CLIP-seq
MIRT2080785	hsa-miR-617	CLIP-seq
MIRT1274572	hsa-miR-621	CLIP-seq
MIRT2080786	hsa-miR-628-5p	CLIP-seq
MIRT2080787	hsa-miR-635	CLIP-seq
MIRT1274575	hsa-miR-651	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT2080788	hsa-miR-657	CLIP-seq
MIRT2080789	hsa-miR-660	CLIP-seq
MIRT2080790	hsa-miR-758	CLIP-seq
MIRT1274577	hsa-miR-769-3p	CLIP-seq
MIRT2080791	hsa-miR-769-5p	CLIP-seq
MIRT1274578	hsa-miR-873	CLIP-seq
MIRT2080792	hsa-miR-885-3p	CLIP-seq
MIRT2080793	hsa-miR-885-5p	CLIP-seq
MIRT2080794	hsa-miR-889	CLIP-seq
MIRT2080795	hsa-miR-891b	CLIP-seq
MIRT1274579	hsa-miR-892b	CLIP-seq
MIRT2080796	hsa-miR-920	CLIP-seq
MIRT1274581	hsa-miR-944	CLIP-seq
MIRT2080629	hsa-miR-1179	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT2306799	hsa-miR-1224-3p	CLIP-seq
MIRT2080631	hsa-miR-1229	CLIP-seq
MIRT1274384	hsa-miR-1243	CLIP-seq
MIRT2306800	hsa-miR-1255a	CLIP-seq
MIRT2306801	hsa-miR-1255b	CLIP-seq
MIRT2306802	hsa-miR-1260	CLIP-seq
MIRT2306803	hsa-miR-1260b	CLIP-seq
MIRT1274387	hsa-miR-1266	CLIP-seq
MIRT1274388	hsa-miR-1273	CLIP-seq
MIRT1274389	hsa-miR-1275	CLIP-seq
MIRT2306804	hsa-miR-1280	CLIP-seq
MIRT1274390	hsa-miR-1286	CLIP-seq
MIRT2080634	hsa-miR-1299	CLIP-seq
MIRT2306805	hsa-miR-132	CLIP-seq
MIRT2080635	hsa-miR-1321	CLIP-seq
MIRT1274394	hsa-miR-138	CLIP-seq
MIRT1274395	hsa-miR-141	CLIP-seq
MIRT1274397	hsa-miR-147	CLIP-seq
MIRT2306806	hsa-miR-1827	CLIP-seq
MIRT2080638	hsa-miR-183	CLIP-seq
MIRT1274399	hsa-miR-185	CLIP-seq
MIRT1274400	hsa-miR-186	CLIP-seq
MIRT2306807	hsa-miR-188-3p	CLIP-seq
MIRT2306808	hsa-miR-194	CLIP-seq
MIRT1274402	hsa-miR-200a	CLIP-seq
MIRT1274403	hsa-miR-200b	CLIP-seq
MIRT1274404	hsa-miR-200c	CLIP-seq
MIRT2306809	hsa-miR-203	CLIP-seq
MIRT2306810	hsa-miR-2117	CLIP-seq
MIRT2306811	hsa-miR-212	CLIP-seq
MIRT1274409	hsa-miR-217	CLIP-seq
MIRT2306812	hsa-miR-218	CLIP-seq
MIRT2080642	hsa-miR-223	CLIP-seq
MIRT2080643	hsa-miR-23a	CLIP-seq
MIRT2080644	hsa-miR-23b	CLIP-seq
MIRT2080645	hsa-miR-23c	CLIP-seq
MIRT1274412	hsa-miR-24	CLIP-seq
MIRT2080646	hsa-miR-2909	CLIP-seq
MIRT2080650	hsa-miR-3120-3p	CLIP-seq
MIRT1274422	hsa-miR-3120-5p	CLIP-seq
MIRT2080651	hsa-miR-3121-3p	CLIP-seq
MIRT1274423	hsa-miR-3122	CLIP-seq
MIRT1274424	hsa-miR-3127-5p	CLIP-seq
MIRT2306813	hsa-miR-3133	CLIP-seq
MIRT2080653	hsa-miR-3145-3p	CLIP-seq
MIRT1274428	hsa-miR-3154	CLIP-seq
MIRT2306814	hsa-miR-3156-3p	CLIP-seq
MIRT2080655	hsa-miR-3162-5p	CLIP-seq
MIRT1274430	hsa-miR-3173-3p	CLIP-seq
MIRT2080663	hsa-miR-3187-3p	CLIP-seq
MIRT2306815	hsa-miR-329	CLIP-seq
MIRT2080668	hsa-miR-330-3p	CLIP-seq
MIRT1274439	hsa-miR-338-5p	CLIP-seq
MIRT2080669	hsa-miR-345	CLIP-seq
MIRT1274440	hsa-miR-3545-3p	CLIP-seq
MIRT1274444	hsa-miR-3614-3p	CLIP-seq
MIRT2306816	hsa-miR-362-3p	CLIP-seq
MIRT1274445	hsa-miR-3646	CLIP-seq
MIRT1274446	hsa-miR-3647-3p	CLIP-seq
MIRT2080674	hsa-miR-3660	CLIP-seq
MIRT2080676	hsa-miR-3664-3p	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT2080677	hsa-miR-3667-3p	CLIP-seq
MIRT2080683	hsa-miR-3692	CLIP-seq
MIRT1274454	hsa-miR-369-3p	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274460	hsa-miR-376a	CLIP-seq
MIRT1274461	hsa-miR-376b	CLIP-seq
MIRT2080685	hsa-miR-378	CLIP-seq
MIRT2080686	hsa-miR-378b	CLIP-seq
MIRT2080687	hsa-miR-378c	CLIP-seq
MIRT2080688	hsa-miR-378d	CLIP-seq
MIRT2080689	hsa-miR-378e	CLIP-seq
MIRT2080690	hsa-miR-378f	CLIP-seq
MIRT2080692	hsa-miR-378h	CLIP-seq
MIRT2080693	hsa-miR-378i	CLIP-seq
MIRT2306817	hsa-miR-3910	CLIP-seq
MIRT2080695	hsa-miR-3913-3p	CLIP-seq
MIRT1274462	hsa-miR-3913-5p	CLIP-seq
MIRT1274464	hsa-miR-3918	CLIP-seq
MIRT1274466	hsa-miR-3942-3p	CLIP-seq
MIRT1274470	hsa-miR-412	CLIP-seq
MIRT1274471	hsa-miR-421	CLIP-seq
MIRT2080702	hsa-miR-422a	CLIP-seq
MIRT2080703	hsa-miR-4256	CLIP-seq
MIRT2306818	hsa-miR-4259	CLIP-seq
MIRT2080704	hsa-miR-4263	CLIP-seq
MIRT1274473	hsa-miR-4264	CLIP-seq
MIRT2080705	hsa-miR-4269	CLIP-seq
MIRT2080706	hsa-miR-4270	CLIP-seq
MIRT2080707	hsa-miR-4272	CLIP-seq
MIRT2306819	hsa-miR-4273	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT1274475	hsa-miR-429	CLIP-seq
MIRT1274476	hsa-miR-4297	CLIP-seq
MIRT1274477	hsa-miR-4306	CLIP-seq
MIRT2080712	hsa-miR-4310	CLIP-seq
MIRT1274481	hsa-miR-4418	CLIP-seq
MIRT2306820	hsa-miR-4424	CLIP-seq
MIRT2080714	hsa-miR-4434	CLIP-seq
MIRT2080717	hsa-miR-4441	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274490	hsa-miR-4475	CLIP-seq
MIRT1274492	hsa-miR-4488	CLIP-seq
MIRT1274493	hsa-miR-4490	CLIP-seq
MIRT2080722	hsa-miR-4493	CLIP-seq
MIRT2080723	hsa-miR-4504	CLIP-seq
MIRT1274495	hsa-miR-450b-3p	CLIP-seq
MIRT2080724	hsa-miR-450b-5p	CLIP-seq
MIRT1274496	hsa-miR-4514	CLIP-seq
MIRT2080726	hsa-miR-4516	CLIP-seq
MIRT1274497	hsa-miR-4518	CLIP-seq
MIRT2080727	hsa-miR-4526	CLIP-seq
MIRT2306821	hsa-miR-4529-5p	CLIP-seq
MIRT2080728	hsa-miR-4531	CLIP-seq
MIRT1274501	hsa-miR-4638-3p	CLIP-seq
MIRT1274503	hsa-miR-4644	CLIP-seq
MIRT2080730	hsa-miR-4645-3p	CLIP-seq
MIRT2080733	hsa-miR-4662a-5p	CLIP-seq
MIRT1274506	hsa-miR-4665-5p	CLIP-seq
MIRT2080735	hsa-miR-4677-5p	CLIP-seq
MIRT2080736	hsa-miR-4678	CLIP-seq
MIRT1274510	hsa-miR-4692	CLIP-seq
MIRT2080739	hsa-miR-4694-3p	CLIP-seq
MIRT1274511	hsa-miR-4695-5p	CLIP-seq
MIRT2080740	hsa-miR-4697-3p	CLIP-seq
MIRT1274512	hsa-miR-4697-5p	CLIP-seq
MIRT2080741	hsa-miR-4698	CLIP-seq
MIRT1274515	hsa-miR-4704-3p	CLIP-seq
MIRT1274516	hsa-miR-4709-5p	CLIP-seq
MIRT2080743	hsa-miR-4713-3p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274518	hsa-miR-4717-5p	CLIP-seq
MIRT2080745	hsa-miR-4719	CLIP-seq
MIRT1274520	hsa-miR-4722-5p	CLIP-seq
MIRT2306822	hsa-miR-4724-5p	CLIP-seq
MIRT2080747	hsa-miR-4736	CLIP-seq
MIRT2080748	hsa-miR-4739	CLIP-seq
MIRT1274524	hsa-miR-4742-5p	CLIP-seq
MIRT2306823	hsa-miR-4747-5p	CLIP-seq
MIRT2080750	hsa-miR-4756-5p	CLIP-seq
MIRT2080753	hsa-miR-4773	CLIP-seq
MIRT1274531	hsa-miR-4774-5p	CLIP-seq
MIRT1274533	hsa-miR-4778-5p	CLIP-seq
MIRT2080755	hsa-miR-4782-5p	CLIP-seq
MIRT2306824	hsa-miR-4785	CLIP-seq
MIRT2306825	hsa-miR-4786-3p	CLIP-seq
MIRT2080756	hsa-miR-4789-5p	CLIP-seq
MIRT2306826	hsa-miR-4793-5p	CLIP-seq
MIRT1274535	hsa-miR-4797-3p	CLIP-seq
MIRT2080757	hsa-miR-4799-5p	CLIP-seq
MIRT2306827	hsa-miR-486-3p	CLIP-seq
MIRT2080758	hsa-miR-489	CLIP-seq
MIRT2080759	hsa-miR-495	CLIP-seq
MIRT2306828	hsa-miR-498	CLIP-seq
MIRT2080761	hsa-miR-501-5p	CLIP-seq
MIRT1274539	hsa-miR-505	CLIP-seq
MIRT1274540	hsa-miR-509-3-5p	CLIP-seq
MIRT1274541	hsa-miR-509-5p	CLIP-seq
MIRT2080765	hsa-miR-516b	CLIP-seq
MIRT1556870	hsa-miR-518a-5p	CLIP-seq
MIRT1274549	hsa-miR-520d-5p	CLIP-seq
MIRT1274554	hsa-miR-524-5p	CLIP-seq
MIRT1556871	hsa-miR-527	CLIP-seq
MIRT2080767	hsa-miR-542-3p	CLIP-seq
MIRT1274555	hsa-miR-545	CLIP-seq
MIRT1274557	hsa-miR-548an	CLIP-seq
MIRT2080772	hsa-miR-548p	CLIP-seq
MIRT1274560	hsa-miR-554	CLIP-seq
MIRT1274561	hsa-miR-561	CLIP-seq
MIRT2080777	hsa-miR-576-5p	CLIP-seq
MIRT2080780	hsa-miR-580	CLIP-seq
MIRT1274565	hsa-miR-581	CLIP-seq
MIRT1274566	hsa-miR-582-5p	CLIP-seq
MIRT2306829	hsa-miR-583	CLIP-seq
MIRT1274567	hsa-miR-590-3p	CLIP-seq
MIRT1274569	hsa-miR-601	CLIP-seq
MIRT1274572	hsa-miR-621	CLIP-seq
MIRT2080786	hsa-miR-628-5p	CLIP-seq
MIRT2306830	hsa-miR-636	CLIP-seq
MIRT2306831	hsa-miR-653	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT2080788	hsa-miR-657	CLIP-seq
MIRT1274577	hsa-miR-769-3p	CLIP-seq
MIRT2080792	hsa-miR-885-3p	CLIP-seq
MIRT2080795	hsa-miR-891b	CLIP-seq
MIRT1274579	hsa-miR-892b	CLIP-seq
MIRT2306832	hsa-miR-9	CLIP-seq
MIRT2080642	hsa-miR-223	CLIP-seq
MIRT2080646	hsa-miR-2909	CLIP-seq
MIRT1274431	hsa-miR-3183	CLIP-seq
MIRT2393192	hsa-miR-323b-5p	CLIP-seq
MIRT1274454	hsa-miR-369-3p	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT2080722	hsa-miR-4493	CLIP-seq
MIRT2080724	hsa-miR-450b-5p	CLIP-seq
MIRT1274500	hsa-miR-4635	CLIP-seq
MIRT2080740	hsa-miR-4697-3p	CLIP-seq
MIRT2080741	hsa-miR-4698	CLIP-seq
MIRT1274521	hsa-miR-4723-3p	CLIP-seq
MIRT2080749	hsa-miR-4753-3p	CLIP-seq
MIRT2080766	hsa-miR-526b	CLIP-seq
MIRT2080780	hsa-miR-580	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT2080792	hsa-miR-885-3p	CLIP-seq
MIRT2080795	hsa-miR-891b	CLIP-seq
MIRT2432307	hsa-miR-146a	CLIP-seq
MIRT2432308	hsa-miR-146b-5p	CLIP-seq
MIRT1274442	hsa-miR-3606	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT2432309	hsa-miR-4251	CLIP-seq
MIRT2080706	hsa-miR-4270	CLIP-seq
MIRT2432310	hsa-miR-4329	CLIP-seq
MIRT2080717	hsa-miR-4441	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274491	hsa-miR-4477a	CLIP-seq
MIRT2432311	hsa-miR-4495	CLIP-seq
MIRT2080743	hsa-miR-4713-3p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274523	hsa-miR-4735-5p	CLIP-seq
MIRT1274532	hsa-miR-4775	CLIP-seq
MIRT2080761	hsa-miR-501-5p	CLIP-seq
MIRT1274549	hsa-miR-520d-5p	CLIP-seq
MIRT1274554	hsa-miR-524-5p	CLIP-seq
MIRT2432312	hsa-miR-548a-5p	CLIP-seq
MIRT2432313	hsa-miR-548ab	CLIP-seq
MIRT2432314	hsa-miR-548ak	CLIP-seq
MIRT2432315	hsa-miR-548b-5p	CLIP-seq
MIRT2432316	hsa-miR-548c-5p	CLIP-seq
MIRT2432317	hsa-miR-548d-5p	CLIP-seq
MIRT2432318	hsa-miR-548h	CLIP-seq
MIRT2432319	hsa-miR-548i	CLIP-seq
MIRT2432320	hsa-miR-548j	CLIP-seq
MIRT2432321	hsa-miR-548k	CLIP-seq
MIRT2432322	hsa-miR-548l	CLIP-seq
MIRT2432323	hsa-miR-548w	CLIP-seq
MIRT2432324	hsa-miR-548y	CLIP-seq
MIRT2432325	hsa-miR-559	CLIP-seq
MIRT1274566	hsa-miR-582-5p	CLIP-seq
MIRT2432326	hsa-miR-589	CLIP-seq
MIRT1274567	hsa-miR-590-3p	CLIP-seq
MIRT2080778	hsa-miR-578	CLIP-seq
MIRT2080629	hsa-miR-1179	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT2604474	hsa-miR-1225-3p	CLIP-seq
MIRT2080630	hsa-miR-1228	CLIP-seq
MIRT2604475	hsa-miR-1233	CLIP-seq
MIRT1274385	hsa-miR-1245	CLIP-seq
MIRT2604476	hsa-miR-1245b-5p	CLIP-seq
MIRT2604477	hsa-miR-1246	CLIP-seq
MIRT2604478	hsa-miR-1256	CLIP-seq
MIRT1274388	hsa-miR-1273	CLIP-seq
MIRT1274389	hsa-miR-1275	CLIP-seq
MIRT1274390	hsa-miR-1286	CLIP-seq
MIRT2604479	hsa-miR-1287	CLIP-seq
MIRT2080632	hsa-miR-1288	CLIP-seq
MIRT2080633	hsa-miR-1291	CLIP-seq
MIRT2604480	hsa-miR-1293	CLIP-seq
MIRT1274391	hsa-miR-129-5p	CLIP-seq
MIRT2306805	hsa-miR-132	CLIP-seq
MIRT2080635	hsa-miR-1321	CLIP-seq
MIRT1274395	hsa-miR-141	CLIP-seq
MIRT2604481	hsa-miR-146b-3p	CLIP-seq
MIRT1274397	hsa-miR-147	CLIP-seq
MIRT1274399	hsa-miR-185	CLIP-seq
MIRT1274401	hsa-miR-1972	CLIP-seq
MIRT1274402	hsa-miR-200a	CLIP-seq
MIRT1274403	hsa-miR-200b	CLIP-seq
MIRT1274404	hsa-miR-200c	CLIP-seq
MIRT2604482	hsa-miR-204	CLIP-seq
MIRT2604483	hsa-miR-211	CLIP-seq
MIRT2080641	hsa-miR-2116	CLIP-seq
MIRT2306811	hsa-miR-212	CLIP-seq
MIRT1274409	hsa-miR-217	CLIP-seq
MIRT2306812	hsa-miR-218	CLIP-seq
MIRT2080642	hsa-miR-223	CLIP-seq
MIRT1274410	hsa-miR-2355-5p	CLIP-seq
MIRT1274414	hsa-miR-298	CLIP-seq
MIRT2080648	hsa-miR-3065-5p	CLIP-seq
MIRT1274420	hsa-miR-3117-5p	CLIP-seq
MIRT1274421	hsa-miR-3119	CLIP-seq
MIRT2080651	hsa-miR-3121-3p	CLIP-seq
MIRT1274423	hsa-miR-3122	CLIP-seq
MIRT2604484	hsa-miR-3130-5p	CLIP-seq
MIRT2604485	hsa-miR-3140-5p	CLIP-seq
MIRT2604486	hsa-miR-3142	CLIP-seq
MIRT2604487	hsa-miR-3143	CLIP-seq
MIRT2604488	hsa-miR-3150a-3p	CLIP-seq
MIRT2604489	hsa-miR-3150a-5p	CLIP-seq
MIRT2604490	hsa-miR-3150b-5p	CLIP-seq
MIRT1274427	hsa-miR-3152-5p	CLIP-seq
MIRT2080656	hsa-miR-3163	CLIP-seq
MIRT2604491	hsa-miR-3168	CLIP-seq
MIRT2080658	hsa-miR-3169	CLIP-seq
MIRT1274430	hsa-miR-3173-3p	CLIP-seq
MIRT2604492	hsa-miR-3175	CLIP-seq
MIRT2080659	hsa-miR-3176	CLIP-seq
MIRT2080662	hsa-miR-3185	CLIP-seq
MIRT1274433	hsa-miR-3189-5p	CLIP-seq
MIRT2080665	hsa-miR-3194-3p	CLIP-seq
MIRT1274435	hsa-miR-320b	CLIP-seq
MIRT1274436	hsa-miR-320c	CLIP-seq
MIRT1274437	hsa-miR-320d	CLIP-seq
MIRT2080667	hsa-miR-328	CLIP-seq
MIRT1274439	hsa-miR-338-5p	CLIP-seq
MIRT2604493	hsa-miR-342-5p	CLIP-seq
MIRT1274440	hsa-miR-3545-3p	CLIP-seq
MIRT2604494	hsa-miR-3591-3p	CLIP-seq
MIRT1274441	hsa-miR-3591-5p	CLIP-seq
MIRT1274442	hsa-miR-3606	CLIP-seq
MIRT1274443	hsa-miR-361-3p	CLIP-seq
MIRT1274446	hsa-miR-3647-3p	CLIP-seq
MIRT2604495	hsa-miR-3652	CLIP-seq
MIRT2080672	hsa-miR-3653	CLIP-seq
MIRT1274448	hsa-miR-3657	CLIP-seq
MIRT2080673	hsa-miR-3658	CLIP-seq
MIRT2080676	hsa-miR-3664-3p	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT2080677	hsa-miR-3667-3p	CLIP-seq
MIRT1274450	hsa-miR-3674	CLIP-seq
MIRT2080680	hsa-miR-3677-5p	CLIP-seq
MIRT1274451	hsa-miR-3679-3p	CLIP-seq
MIRT1274452	hsa-miR-3689d	CLIP-seq
MIRT1274453	hsa-miR-3691-3p	CLIP-seq
MIRT2080683	hsa-miR-3692	CLIP-seq
MIRT2080684	hsa-miR-370	CLIP-seq
MIRT2604496	hsa-miR-371-5p	CLIP-seq
MIRT2604497	hsa-miR-371b-5p	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274460	hsa-miR-376a	CLIP-seq
MIRT1274461	hsa-miR-376b	CLIP-seq
MIRT2604498	hsa-miR-3907	CLIP-seq
MIRT2080695	hsa-miR-3913-3p	CLIP-seq
MIRT1274462	hsa-miR-3913-5p	CLIP-seq
MIRT2080698	hsa-miR-3922-3p	CLIP-seq
MIRT1274466	hsa-miR-3942-3p	CLIP-seq
MIRT1274468	hsa-miR-3973	CLIP-seq
MIRT2080701	hsa-miR-409-3p	CLIP-seq
MIRT2306818	hsa-miR-4259	CLIP-seq
MIRT2080704	hsa-miR-4263	CLIP-seq
MIRT2080706	hsa-miR-4270	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT1274475	hsa-miR-429	CLIP-seq
MIRT2080708	hsa-miR-4292	CLIP-seq
MIRT1274476	hsa-miR-4297	CLIP-seq
MIRT1274477	hsa-miR-4306	CLIP-seq
MIRT1274479	hsa-miR-4312	CLIP-seq
MIRT2604499	hsa-miR-4327	CLIP-seq
MIRT1274480	hsa-miR-4328	CLIP-seq
MIRT1274481	hsa-miR-4418	CLIP-seq
MIRT2080713	hsa-miR-4428	CLIP-seq
MIRT1274482	hsa-miR-4429	CLIP-seq
MIRT2604500	hsa-miR-4430	CLIP-seq
MIRT2080716	hsa-miR-4436a	CLIP-seq
MIRT2080717	hsa-miR-4441	CLIP-seq
MIRT2080718	hsa-miR-4446-3p	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274485	hsa-miR-4447	CLIP-seq
MIRT1274486	hsa-miR-4450	CLIP-seq
MIRT1274487	hsa-miR-4457	CLIP-seq
MIRT1274488	hsa-miR-4470	CLIP-seq
MIRT1274489	hsa-miR-4472	CLIP-seq
MIRT1274490	hsa-miR-4475	CLIP-seq
MIRT2604501	hsa-miR-4481	CLIP-seq
MIRT2604502	hsa-miR-4482	CLIP-seq
MIRT2604503	hsa-miR-4483	CLIP-seq
MIRT1274492	hsa-miR-4488	CLIP-seq
MIRT1274493	hsa-miR-4490	CLIP-seq
MIRT2604504	hsa-miR-4492	CLIP-seq
MIRT2604505	hsa-miR-4498	CLIP-seq
MIRT1274494	hsa-miR-4503	CLIP-seq
MIRT1274495	hsa-miR-450b-3p	CLIP-seq
MIRT2080725	hsa-miR-4511	CLIP-seq
MIRT1274496	hsa-miR-4514	CLIP-seq
MIRT1274502	hsa-miR-4641	CLIP-seq
MIRT1274503	hsa-miR-4644	CLIP-seq
MIRT2080731	hsa-miR-4650-5p	CLIP-seq
MIRT1274504	hsa-miR-4651	CLIP-seq
MIRT1274505	hsa-miR-4656	CLIP-seq
MIRT2604506	hsa-miR-4663	CLIP-seq
MIRT2604507	hsa-miR-4664-5p	CLIP-seq
MIRT1274506	hsa-miR-4665-5p	CLIP-seq
MIRT1274509	hsa-miR-4667-5p	CLIP-seq
MIRT2080734	hsa-miR-4668-3p	CLIP-seq
MIRT2604508	hsa-miR-4669	CLIP-seq
MIRT2604509	hsa-miR-4680-3p	CLIP-seq
MIRT2080737	hsa-miR-4684-3p	CLIP-seq
MIRT2604510	hsa-miR-4684-5p	CLIP-seq
MIRT2080738	hsa-miR-4685-5p	CLIP-seq
MIRT2604511	hsa-miR-4690-3p	CLIP-seq
MIRT1274510	hsa-miR-4692	CLIP-seq
MIRT1274511	hsa-miR-4695-5p	CLIP-seq
MIRT2080740	hsa-miR-4697-3p	CLIP-seq
MIRT1274512	hsa-miR-4697-5p	CLIP-seq
MIRT1274513	hsa-miR-4700-5p	CLIP-seq
MIRT2080742	hsa-miR-4701-5p	CLIP-seq
MIRT1274514	hsa-miR-4703-3p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274518	hsa-miR-4717-5p	CLIP-seq
MIRT1274520	hsa-miR-4722-5p	CLIP-seq
MIRT1274522	hsa-miR-4724-3p	CLIP-seq
MIRT2080746	hsa-miR-4733-3p	CLIP-seq
MIRT2080747	hsa-miR-4736	CLIP-seq
MIRT2080748	hsa-miR-4739	CLIP-seq
MIRT2604512	hsa-miR-4745-5p	CLIP-seq
MIRT2604513	hsa-miR-4755-5p	CLIP-seq
MIRT2080750	hsa-miR-4756-5p	CLIP-seq
MIRT1274527	hsa-miR-4758-3p	CLIP-seq
MIRT2604514	hsa-miR-4758-5p	CLIP-seq
MIRT2604515	hsa-miR-4768-5p	CLIP-seq
MIRT2080753	hsa-miR-4773	CLIP-seq
MIRT1274530	hsa-miR-4774-3p	CLIP-seq
MIRT1274531	hsa-miR-4774-5p	CLIP-seq
MIRT2306825	hsa-miR-4786-3p	CLIP-seq
MIRT1274534	hsa-miR-4793-3p	CLIP-seq
MIRT2604516	hsa-miR-4796-5p	CLIP-seq
MIRT2306827	hsa-miR-486-3p	CLIP-seq
MIRT2080758	hsa-miR-489	CLIP-seq
MIRT2604517	hsa-miR-491-5p	CLIP-seq
MIRT1274540	hsa-miR-509-3-5p	CLIP-seq
MIRT1274541	hsa-miR-509-5p	CLIP-seq
MIRT2080762	hsa-miR-510	CLIP-seq
MIRT1274543	hsa-miR-513b	CLIP-seq
MIRT1556870	hsa-miR-518a-5p	CLIP-seq
MIRT1274551	hsa-miR-520g	CLIP-seq
MIRT1274552	hsa-miR-520h	CLIP-seq
MIRT1556871	hsa-miR-527	CLIP-seq
MIRT1274555	hsa-miR-545	CLIP-seq
MIRT2604518	hsa-miR-548ad	CLIP-seq
MIRT2080769	hsa-miR-548b-3p	CLIP-seq
MIRT2604519	hsa-miR-548c-3p	CLIP-seq
MIRT1274560	hsa-miR-554	CLIP-seq
MIRT2080775	hsa-miR-556-3p	CLIP-seq
MIRT1274561	hsa-miR-561	CLIP-seq
MIRT1274564	hsa-miR-570	CLIP-seq
MIRT2080777	hsa-miR-576-5p	CLIP-seq
MIRT2080780	hsa-miR-580	CLIP-seq
MIRT1274565	hsa-miR-581	CLIP-seq
MIRT2080782	hsa-miR-588	CLIP-seq
MIRT1274568	hsa-miR-591	CLIP-seq
MIRT1274569	hsa-miR-601	CLIP-seq
MIRT2604520	hsa-miR-605	CLIP-seq
MIRT1274571	hsa-miR-608	CLIP-seq
MIRT2080784	hsa-miR-616	CLIP-seq
MIRT2604521	hsa-miR-623	CLIP-seq
MIRT2080786	hsa-miR-628-5p	CLIP-seq
MIRT2306830	hsa-miR-636	CLIP-seq
MIRT1274573	hsa-miR-637	CLIP-seq
MIRT1274574	hsa-miR-640	CLIP-seq
MIRT2604522	hsa-miR-645	CLIP-seq
MIRT2604523	hsa-miR-654-3p	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT2080788	hsa-miR-657	CLIP-seq
MIRT2604524	hsa-miR-762	CLIP-seq
MIRT1274577	hsa-miR-769-3p	CLIP-seq
MIRT2080791	hsa-miR-769-5p	CLIP-seq
MIRT2080793	hsa-miR-885-5p	CLIP-seq
MIRT1274579	hsa-miR-892b	CLIP-seq
MIRT1274580	hsa-miR-921	CLIP-seq
MIRT2604525	hsa-miR-939	CLIP-seq
MIRT2080629	hsa-miR-1179	CLIP-seq
MIRT1274382	hsa-miR-1205	CLIP-seq
MIRT2604474	hsa-miR-1225-3p	CLIP-seq
MIRT2080630	hsa-miR-1228	CLIP-seq
MIRT2604475	hsa-miR-1233	CLIP-seq
MIRT1274385	hsa-miR-1245	CLIP-seq
MIRT2604476	hsa-miR-1245b-5p	CLIP-seq
MIRT2604477	hsa-miR-1246	CLIP-seq
MIRT2604478	hsa-miR-1256	CLIP-seq
MIRT1274388	hsa-miR-1273	CLIP-seq
MIRT1274389	hsa-miR-1275	CLIP-seq
MIRT1274390	hsa-miR-1286	CLIP-seq
MIRT2604479	hsa-miR-1287	CLIP-seq
MIRT2080632	hsa-miR-1288	CLIP-seq
MIRT2604480	hsa-miR-1293	CLIP-seq
MIRT1274391	hsa-miR-129-5p	CLIP-seq
MIRT2306805	hsa-miR-132	CLIP-seq
MIRT2080635	hsa-miR-1321	CLIP-seq
MIRT1274395	hsa-miR-141	CLIP-seq
MIRT2604481	hsa-miR-146b-3p	CLIP-seq
MIRT1274397	hsa-miR-147	CLIP-seq
MIRT1274399	hsa-miR-185	CLIP-seq
MIRT1274401	hsa-miR-1972	CLIP-seq
MIRT1274402	hsa-miR-200a	CLIP-seq
MIRT1274403	hsa-miR-200b	CLIP-seq
MIRT1274404	hsa-miR-200c	CLIP-seq
MIRT2604482	hsa-miR-204	CLIP-seq
MIRT2604483	hsa-miR-211	CLIP-seq
MIRT2080641	hsa-miR-2116	CLIP-seq
MIRT2306811	hsa-miR-212	CLIP-seq
MIRT1274409	hsa-miR-217	CLIP-seq
MIRT2306812	hsa-miR-218	CLIP-seq
MIRT2080642	hsa-miR-223	CLIP-seq
MIRT1274410	hsa-miR-2355-5p	CLIP-seq
MIRT1274414	hsa-miR-298	CLIP-seq
MIRT1274420	hsa-miR-3117-5p	CLIP-seq
MIRT1274421	hsa-miR-3119	CLIP-seq
MIRT2080651	hsa-miR-3121-3p	CLIP-seq
MIRT1274423	hsa-miR-3122	CLIP-seq
MIRT2604484	hsa-miR-3130-5p	CLIP-seq
MIRT2604485	hsa-miR-3140-5p	CLIP-seq
MIRT2604486	hsa-miR-3142	CLIP-seq
MIRT2604487	hsa-miR-3143	CLIP-seq
MIRT2604488	hsa-miR-3150a-3p	CLIP-seq
MIRT2604489	hsa-miR-3150a-5p	CLIP-seq
MIRT2604490	hsa-miR-3150b-5p	CLIP-seq
MIRT1274427	hsa-miR-3152-5p	CLIP-seq
MIRT2080656	hsa-miR-3163	CLIP-seq
MIRT2604491	hsa-miR-3168	CLIP-seq
MIRT2080658	hsa-miR-3169	CLIP-seq
MIRT1274430	hsa-miR-3173-3p	CLIP-seq
MIRT2604492	hsa-miR-3175	CLIP-seq
MIRT2080662	hsa-miR-3185	CLIP-seq
MIRT1274433	hsa-miR-3189-5p	CLIP-seq
MIRT1274435	hsa-miR-320b	CLIP-seq
MIRT1274436	hsa-miR-320c	CLIP-seq
MIRT1274437	hsa-miR-320d	CLIP-seq
MIRT1274439	hsa-miR-338-5p	CLIP-seq
MIRT2604493	hsa-miR-342-5p	CLIP-seq
MIRT1274440	hsa-miR-3545-3p	CLIP-seq
MIRT2604494	hsa-miR-3591-3p	CLIP-seq
MIRT1274441	hsa-miR-3591-5p	CLIP-seq
MIRT1274442	hsa-miR-3606	CLIP-seq
MIRT1274443	hsa-miR-361-3p	CLIP-seq
MIRT2604495	hsa-miR-3652	CLIP-seq
MIRT2080672	hsa-miR-3653	CLIP-seq
MIRT1274448	hsa-miR-3657	CLIP-seq
MIRT2080673	hsa-miR-3658	CLIP-seq
MIRT2080676	hsa-miR-3664-3p	CLIP-seq
MIRT1274449	hsa-miR-3664-5p	CLIP-seq
MIRT2080677	hsa-miR-3667-3p	CLIP-seq
MIRT1274450	hsa-miR-3674	CLIP-seq
MIRT2080680	hsa-miR-3677-5p	CLIP-seq
MIRT1274451	hsa-miR-3679-3p	CLIP-seq
MIRT1274452	hsa-miR-3689d	CLIP-seq
MIRT1274453	hsa-miR-3691-3p	CLIP-seq
MIRT2080683	hsa-miR-3692	CLIP-seq
MIRT2080684	hsa-miR-370	CLIP-seq
MIRT2604496	hsa-miR-371-5p	CLIP-seq
MIRT2604497	hsa-miR-371b-5p	CLIP-seq
MIRT1274459	hsa-miR-374c	CLIP-seq
MIRT1274460	hsa-miR-376a	CLIP-seq
MIRT1274461	hsa-miR-376b	CLIP-seq
MIRT2604498	hsa-miR-3907	CLIP-seq
MIRT2080695	hsa-miR-3913-3p	CLIP-seq
MIRT1274462	hsa-miR-3913-5p	CLIP-seq
MIRT1274466	hsa-miR-3942-3p	CLIP-seq
MIRT1274468	hsa-miR-3973	CLIP-seq
MIRT2080701	hsa-miR-409-3p	CLIP-seq
MIRT2306818	hsa-miR-4259	CLIP-seq
MIRT2689059	hsa-miR-4267	CLIP-seq
MIRT2080706	hsa-miR-4270	CLIP-seq
MIRT1274474	hsa-miR-4276	CLIP-seq
MIRT1274475	hsa-miR-429	CLIP-seq
MIRT1274476	hsa-miR-4297	CLIP-seq
MIRT1274477	hsa-miR-4306	CLIP-seq
MIRT1274479	hsa-miR-4312	CLIP-seq
MIRT2604499	hsa-miR-4327	CLIP-seq
MIRT1274480	hsa-miR-4328	CLIP-seq
MIRT1274481	hsa-miR-4418	CLIP-seq
MIRT2080713	hsa-miR-4428	CLIP-seq
MIRT1274482	hsa-miR-4429	CLIP-seq
MIRT2604500	hsa-miR-4430	CLIP-seq
MIRT2080716	hsa-miR-4436a	CLIP-seq
MIRT2080717	hsa-miR-4441	CLIP-seq
MIRT2080718	hsa-miR-4446-3p	CLIP-seq
MIRT1274484	hsa-miR-4446-5p	CLIP-seq
MIRT1274485	hsa-miR-4447	CLIP-seq
MIRT1274486	hsa-miR-4450	CLIP-seq
MIRT1274487	hsa-miR-4457	CLIP-seq
MIRT1274488	hsa-miR-4470	CLIP-seq
MIRT1274489	hsa-miR-4472	CLIP-seq
MIRT1274490	hsa-miR-4475	CLIP-seq
MIRT2604501	hsa-miR-4481	CLIP-seq
MIRT2604502	hsa-miR-4482	CLIP-seq
MIRT2604503	hsa-miR-4483	CLIP-seq
MIRT1274492	hsa-miR-4488	CLIP-seq
MIRT1274493	hsa-miR-4490	CLIP-seq
MIRT2604504	hsa-miR-4492	CLIP-seq
MIRT2604505	hsa-miR-4498	CLIP-seq
MIRT1274494	hsa-miR-4503	CLIP-seq
MIRT1274495	hsa-miR-450b-3p	CLIP-seq
MIRT2080725	hsa-miR-4511	CLIP-seq
MIRT1274496	hsa-miR-4514	CLIP-seq
MIRT1274502	hsa-miR-4641	CLIP-seq
MIRT1274503	hsa-miR-4644	CLIP-seq
MIRT2080731	hsa-miR-4650-5p	CLIP-seq
MIRT1274504	hsa-miR-4651	CLIP-seq
MIRT1274505	hsa-miR-4656	CLIP-seq
MIRT2604506	hsa-miR-4663	CLIP-seq
MIRT2604507	hsa-miR-4664-5p	CLIP-seq
MIRT1274506	hsa-miR-4665-5p	CLIP-seq
MIRT1274509	hsa-miR-4667-5p	CLIP-seq
MIRT2080734	hsa-miR-4668-3p	CLIP-seq
MIRT2604508	hsa-miR-4669	CLIP-seq
MIRT2604509	hsa-miR-4680-3p	CLIP-seq
MIRT2080737	hsa-miR-4684-3p	CLIP-seq
MIRT2604510	hsa-miR-4684-5p	CLIP-seq
MIRT2080738	hsa-miR-4685-5p	CLIP-seq
MIRT2604511	hsa-miR-4690-3p	CLIP-seq
MIRT1274510	hsa-miR-4692	CLIP-seq
MIRT1274511	hsa-miR-4695-5p	CLIP-seq
MIRT2080740	hsa-miR-4697-3p	CLIP-seq
MIRT1274512	hsa-miR-4697-5p	CLIP-seq
MIRT1274513	hsa-miR-4700-5p	CLIP-seq
MIRT2080742	hsa-miR-4701-5p	CLIP-seq
MIRT1274514	hsa-miR-4703-3p	CLIP-seq
MIRT1274517	hsa-miR-4714-5p	CLIP-seq
MIRT1274518	hsa-miR-4717-5p	CLIP-seq
MIRT2080745	hsa-miR-4719	CLIP-seq
MIRT1274520	hsa-miR-4722-5p	CLIP-seq
MIRT1274522	hsa-miR-4724-3p	CLIP-seq
MIRT2080746	hsa-miR-4733-3p	CLIP-seq
MIRT2080747	hsa-miR-4736	CLIP-seq
MIRT2080748	hsa-miR-4739	CLIP-seq
MIRT2604512	hsa-miR-4745-5p	CLIP-seq
MIRT2604513	hsa-miR-4755-5p	CLIP-seq
MIRT2080750	hsa-miR-4756-5p	CLIP-seq
MIRT1274527	hsa-miR-4758-3p	CLIP-seq
MIRT2604514	hsa-miR-4758-5p	CLIP-seq
MIRT2604515	hsa-miR-4768-5p	CLIP-seq
MIRT2080753	hsa-miR-4773	CLIP-seq
MIRT1274530	hsa-miR-4774-3p	CLIP-seq
MIRT1274531	hsa-miR-4774-5p	CLIP-seq
MIRT2306825	hsa-miR-4786-3p	CLIP-seq
MIRT1274534	hsa-miR-4793-3p	CLIP-seq
MIRT2604516	hsa-miR-4796-5p	CLIP-seq
MIRT2306827	hsa-miR-486-3p	CLIP-seq
MIRT2080758	hsa-miR-489	CLIP-seq
MIRT2604517	hsa-miR-491-5p	CLIP-seq
MIRT1274540	hsa-miR-509-3-5p	CLIP-seq
MIRT1274541	hsa-miR-509-5p	CLIP-seq
MIRT2080762	hsa-miR-510	CLIP-seq
MIRT1274543	hsa-miR-513b	CLIP-seq
MIRT1556870	hsa-miR-518a-5p	CLIP-seq
MIRT1274551	hsa-miR-520g	CLIP-seq
MIRT1274552	hsa-miR-520h	CLIP-seq
MIRT1556871	hsa-miR-527	CLIP-seq
MIRT1274555	hsa-miR-545	CLIP-seq
MIRT2604518	hsa-miR-548ad	CLIP-seq
MIRT2080769	hsa-miR-548b-3p	CLIP-seq
MIRT2604519	hsa-miR-548c-3p	CLIP-seq
MIRT2080775	hsa-miR-556-3p	CLIP-seq
MIRT1274561	hsa-miR-561	CLIP-seq
MIRT1274564	hsa-miR-570	CLIP-seq
MIRT2080780	hsa-miR-580	CLIP-seq
MIRT1274565	hsa-miR-581	CLIP-seq
MIRT2080782	hsa-miR-588	CLIP-seq
MIRT2604520	hsa-miR-605	CLIP-seq
MIRT1274571	hsa-miR-608	CLIP-seq
MIRT2080784	hsa-miR-616	CLIP-seq
MIRT2604521	hsa-miR-623	CLIP-seq
MIRT2080786	hsa-miR-628-5p	CLIP-seq
MIRT2306830	hsa-miR-636	CLIP-seq
MIRT1274573	hsa-miR-637	CLIP-seq
MIRT1274574	hsa-miR-640	CLIP-seq
MIRT2604522	hsa-miR-645	CLIP-seq
MIRT2604523	hsa-miR-654-3p	CLIP-seq
MIRT1274576	hsa-miR-655	CLIP-seq
MIRT2080788	hsa-miR-657	CLIP-seq
MIRT2604524	hsa-miR-762	CLIP-seq
MIRT1274577	hsa-miR-769-3p	CLIP-seq
MIRT2080791	hsa-miR-769-5p	CLIP-seq
MIRT2080792	hsa-miR-885-3p	CLIP-seq
MIRT1274579	hsa-miR-892b	CLIP-seq
MIRT1274580	hsa-miR-921	CLIP-seq
MIRT2604525	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IPI	11986327
GO:0002283	Process	Neutrophil activation involved in immune response	ISS
GO:0004721	Function	Phosphoprotein phosphatase activity	IDA	15133037
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	EXP	22759635, 26617336
GO:0004725	Function	Protein tyrosine phosphatase activity	IDA	15133037, 23029125, 26742426, 28074573
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0004725	Function	Protein tyrosine phosphatase activity	IMP	10206955, 17562706
GO:0004725	Function	Protein tyrosine phosphatase activity	TAS
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IBA
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IDA	16481357
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IEA
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	IMP	10655584
GO:0004726	Function	Non-membrane spanning protein tyrosine phosphatase activity	TAS
GO:0005158	Function	Insulin receptor binding	IPI	7493946
GO:0005515	Function	Protein binding	IPI	7493946, 7504175, 7513703, 7523381, 7530043, 7642582, 7688466, 8119896, 8183548, 8538796, 8648092, 8810330, 8895367, 9312087, 9535915, 9593725, 9632781, 9658397, 9774457, 9792637, 10206955, 10540326, 10655584, 10660596, 10681522, 10704309, 10887109, 11323411, 11453982, 12051764, 12577
GO:0005634	Component	Nucleus	IDA	15133037, 26742426
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IC	26358190
GO:0005737	Component	Cytoplasm	IDA	10940933, 15133037, 26742426
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007420	Process	Brain development	IMP	11704759
GO:0007507	Process	Heart development	IMP	12058348
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IMP	16481357
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IPI	7493946
GO:0030220	Process	Platelet formation	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IBA
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0031295	Process	T cell costimulation	IEA
GO:0031295	Process	T cell costimulation	TAS
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	IEA
GO:0031666	Process	Positive regulation of lipopolysaccharide-mediated signaling pathway	ISS
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	ISS
GO:0032480	Process	Negative regulation of type I interferon production	IDA	26358190
GO:0032480	Process	Negative regulation of type I interferon production	IDA	26358190
GO:0032481	Process	Positive regulation of type I interferon production	IDA	14703513
GO:0032528	Process	Microvillus organization	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0032991	Component	Protein-containing complex	IMP	17562706
GO:0033628	Process	Regulation of cell adhesion mediated by integrin	IMP	10655584
GO:0033629	Process	Negative regulation of cell adhesion mediated by integrin	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035265	Process	Organ growth	IEA
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IDA	15133037
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IMP	10655584, 17562706
GO:0035855	Process	Megakaryocyte development	IEA
GO:0036302	Process	Atrioventricular canal development	IMP	12058348
GO:0038127	Process	ERBB signaling pathway	IBA
GO:0038127	Process	ERBB signaling pathway	IDA	15133037
GO:0042130	Process	Negative regulation of T cell proliferation	IDA	15568026
GO:0042311	Process	Vasodilation	IMP	26706435
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	7493946
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0045296	Function	Cadherin binding	IPI	15985432
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045778	Process	Positive regulation of ossification	ISS
GO:0045931	Process	Positive regulation of mitotic cell cycle	IEA
GO:0046326	Process	Positive regulation of D-glucose import	IDA	7493946
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	IDA	7493946
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046825	Process	Regulation of protein export from nucleus	IEA
GO:0046887	Process	Positive regulation of hormone secretion	IEA
GO:0046888	Process	Negative regulation of hormone secretion	IEA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IEA
GO:0048013	Process	Ephrin receptor signaling pathway	IDA	10655584
GO:0048806	Process	Genitalia development	IMP	12058348
GO:0048839	Process	Inner ear development	IMP	12058348
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	15985432
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051463	Process	Negative regulation of cortisol secretion	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	26706435
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	26358190
GO:0060125	Process	Negative regulation of growth hormone secretion	IEA
GO:0060325	Process	Face morphogenesis	IMP	11704759
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	IEA
GO:0060338	Process	Regulation of type I interferon-mediated signaling pathway	TAS
GO:0061582	Process	Intestinal epithelial cell migration	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	28074573
GO:0071260	Process	Cellular response to mechanical stimulus	IMP	26706435
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IMP	28074573
GO:1902533	Process	Positive regulation of intracellular signal transduction	IMP	26706435
GO:1902564	Process	Negative regulation of neutrophil activation	IDA	34234773
GO:1902564	Process	Negative regulation of neutrophil activation	IEA
GO:1990782	Function	Protein tyrosine kinase binding	IPI	15985432

Other IDs

• MIM: 176876
• HGNC: 9644
• e!Ensembl: ENSG00000179295

Protein

• UniProt ID: Q06124
• Protein name: Tyrosine-protein phosphatase non-receptor type 11 (EC 3.1.3.48) (Protein-tyrosine phosphatase 1D) (PTP-1D) (Protein-tyrosine phosphatase 2C) (PTP-2C) (SH-PTP2) (SHP-2) (Shp2) (SH-PTP3)
• Protein function: Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:14739280, PubMed:18559669, PubMed:18829466, PubMed:26742426, Pub
• PDB: 2SHP, 3B7O, 3MOW, 3O5X, 3TKZ, 3TL0, 3ZM0, 3ZM1, 3ZM2, 3ZM3, 4DGP, 4DGX, 4GWF, 4H1O, 4H34, 4JE4, 4JEG, 4JMG, 4NWF, 4NWG, 4OHD, 4OHE, 4OHH, 4OHI, 4OHL, 4PVG, 4QSY, 4RDD, 5BK8, 5DF6, 5EHP, 5EHR, 5I6V, 5IBM, 5IBS, 5X7B, 5X94, 5XZR, 6ATD, 6BMR, 6BMU, 6BMV, 6BMW, 6BMX, 6BMY, 6BN5, 6CMP, 6CMQ, 6CMR, 6CMS, 6CRF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00017	SH2	6 → 81	SH2 domain	Domain
  PF00017	SH2	112 → 197	SH2 domain	Domain
  PF00102	Y_phosphatase	273 → 524	Protein-tyrosine phosphatase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, brain, and skeletal muscle. {ECO:0000269|PubMed:1280823, ECO:0000269|PubMed:7681589, ECO:0000269|PubMed:8216283}.
• Sequence:

  MTSRRWFHPNITGVEAENLLLTRGVDGSFLARPSKSNPGDFTLSVRRNGAVTHIKIQNTG
  DYYDLYGGEKFATLAELVQYYMEHHGQLKEKNGDVIELKYPLNCADPTSERWFHGHLSGK
  EAEKLLTEKGKHGSFLVRESQSHPGDFVLSVRTGDDKGESNDGKSKVTHVMIRCQELKYD
  VGGGERFDSLTDLVEHYKKNPMVETLGTVLQLKQPLNTTRINAAEIESRVRELSKLAETT
  DKVKQGFWEEFETLQQQECKLLYSRKEGQRQENKNKNRYKNILPFDHTRVVLHDGDPNEP
  VSDYINANIIMPEFETKCNNSKPKKSYIATQGCLQNTVNDFWRMVFQENSRVIVMTTKEV
  ERGKSKCVKYWPDEYALKEYGVMRVRNVKESAAHDYTLRELKLSKVGQGNTERTVWQYHF
  RTWPDHGVPSDPGGVLDFLEEVHHKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIR
  EKGVDCDIDVPKTIQMVRSQRSGMVQTEAQYRFIYMAVQHYIETLQRRIEEEQKSKRKGH
  EYTNIKYSLADQTSGDQSPLPPCTPTPPCAEMREDSARVYENVGLMQQQKSFR

• Sequence length: 593

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Pathogenic	rs28933386	RCV001270562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cardiovascular system morphology	Pathogenic	rs121918461	RCV000626829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal facial shape	Likely pathogenic; Pathogenic	rs397507540, rs397507542	RCV001730478 RCV000626828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Astrocytic tumor	Likely pathogenic; Pathogenic	rs397507539	RCV003764999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs397507517	RCV001257614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B lymphoblastic leukemia lymphoma, no ICD-O subtype	Pathogenic	rs121918459	RCV000722014	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachycephaly	Pathogenic	rs397507520	RCV001003604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cafe-au-lait spot	Pathogenic	rs397507542	RCV000626828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs121918463, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918462, rs121918466, rs121918469, rs121918470, rs397507501, rs397507504, rs397507505, rs397507507, rs397507509, rs397507510, rs397507511, rs397507514, rs397507518, rs397507519, rs397507520, rs397507523, rs397507525, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550	RCV002408715 RCV005462887 RCV002426502 RCV000621227 RCV005462888 RCV000617951 RCV002408460 RCV002390104 RCV004984639 RCV002415414 RCV002453257 RCV002390105 RCV004018624 RCV002399352 RCV005462890 RCV002408493 RCV006342082 RCV002408494 RCV002408495 RCV002408496 RCV002415446 RCV005259985 RCV005462891 RCV002453282 RCV004984651 RCV005712125 RCV000617179 RCV002399353 RCV006342083 RCV002415447 RCV004658964 RCV002444453 RCV002444454 RCV004018710 RCV002371807 RCV002390129 RCV004018714 RCV002390130 RCV004018715 RCV004018716 RCV005462892 RCV002390131 RCV000618529 RCV002390132 RCV002390133 RCV000619738 RCV002399355 RCV002408501 RCV002415470 RCV002422462	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CBL-related disorder	Pathogenic	rs121918456	RCV000492270	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft lip/palate	Pathogenic	rs397507529	RCV005623287	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital long QT syndrome	Pathogenic	rs397507548	RCV004732584	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse glioma, H3 G34 mutant	Pathogenic	rs28933386	RCV006253544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse midline glioma, H3 K27M-mutant	Pathogenic; Likely pathogenic	rs121918468, rs397507501, rs397507541, rs397507544	RCV006253549 RCV006253714 RCV006253715 RCV006253716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early T cell progenitor acute lymphoblastic leukemia	Pathogenic	rs121918463	RCV000190417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs397507542, rs886039463, rs121918468, rs121918470, rs397507550	RCV006254336 RCV006253933 RCV006253548 RCV006253550 RCV006253718	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs397507520	RCV001003604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic	rs28933386, rs121918459	RCV001293867 RCV005251036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy	Pathogenic	rs121918457, rs397507520	RCV000853462 RCV000626830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs121918462, rs397507545	RCV005624686 RCV005624717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile myelomonocytic leukemia	Likely pathogenic; Pathogenic	rs2038154558, rs121918453, rs397507539, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918465, rs121918466, rs267606990, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507520, rs397507525, rs376607329, rs397507529, rs397507531, rs397507540, rs397507541, rs397507543, rs397507545, rs397507546, rs397507547, rs397507550, rs397516801, rs397507527, rs397507536	RCV002503431 RCV000824740 RCV005008065 RCV000762883 RCV000515213 RCV000515324 RCV000515421 RCV000768062 RCV000762882 RCV000824738 RCV000515406 RCV000033543 RCV000515408 RCV000515312 RCV000014265 RCV000014267 RCV000515381 RCV002496356 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV003224113 RCV000762884 RCV000824742 RCV000515221 RCV002496500 RCV001536068 RCV002054539 RCV000762885 RCV002482942 RCV002490445 RCV004795948 RCV002490446 RCV002504856 RCV002490447 RCV004795949 RCV000033542 RCV000515165 RCV000762886 RCV002490448 RCV000762887 RCV002490449 RCV005007952 RCV002504894 RCV005012502	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEOPARD syndrome 1	Likely pathogenic; Pathogenic	rs2038154558, rs727503380, rs397507539, rs1555267558, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918466, rs121918468, rs121918469, rs121918470, rs267606990, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507519, rs397507520, rs397507525, rs376607329, rs397507527, rs397507529, rs397507531, rs397507540, rs397507541, rs397507542, rs397507543, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397507509, rs397507536, rs2037994433	RCV002503431 RCV004562308 RCV005008065 RCV003333582 RCV000576667 RCV000515213 RCV000515324 RCV000515421 RCV000055890 RCV000762882 RCV001270166 RCV000055884 RCV002490364 RCV000515408 RCV000515312 RCV004562208 RCV000515381 RCV000055882 RCV000055883 RCV000014272 RCV001002770 RCV002496356 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV000576434 RCV000762884 RCV003333004 RCV000515221 RCV002496500 RCV001253554 RCV003147309 RCV002054539 RCV000762885 RCV002482942 RCV001729356 RCV002490445 RCV004795948 RCV002490446 RCV001335067 RCV000055885 RCV000055886 RCV004795949 RCV000515165 RCV000762886 RCV000677651 RCV000762887 RCV000055887 RCV000055888 RCV003147314 RCV002464090 RCV001330780 RCV003224860 RCV000055889 RCV005012502 RCV001253203	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Low grade glioma	Likely pathogenic; Pathogenic	rs121918453	RCV006253841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Pathogenic	rs121918459	RCV000722014	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Pathogenic; Likely pathogenic	rs28933386, rs2540419851, rs369155025, rs397507505, rs397507547	RCV003991568 RCV003991596 RCV003991597 RCV003991571 RCV003991572	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Likely pathogenic; Pathogenic	rs2135901920, rs2038154558, rs2135902166, rs2540465831, rs727503380, rs397507539, rs1555267558, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918466, rs2540420563, rs267606989, rs267606990, rs771672596, rs398122857, rs398122858, rs398122859, rs387907157, rs398122860, rs398122861, rs387907158, rs398122862, rs1052382672, rs397507501, rs397507505, rs397507506, rs397507507, rs397507510, rs397507514, rs397507519, rs397507520, rs397507525, rs376607329, rs397507527, rs397507529, rs397507531, rs397507540, rs397507541, rs397507543, rs397507545, rs397507546, rs397507547, rs397507550, rs397516801, rs397516807, rs1592852978, rs397507536, rs2540416086	RCV003128275 RCV002503431 RCV002226944 RCV002287853 RCV004562307 RCV005008065 RCV003333581 RCV000762883 RCV000515213 RCV000515324 RCV000515421 RCV000768062 RCV000762882 RCV002490363 RCV000515406 RCV002490364 RCV000515408 RCV000515312 RCV004562207 RCV000515381 RCV000014275 RCV000014276 RCV000988912 RCV004515745 RCV000024255 RCV000024256 RCV000024257 RCV000024258 RCV000024259 RCV000024260 RCV000024261 RCV000024262 RCV004796235 RCV002482941 RCV000768061 RCV004795945 RCV000515267 RCV002490444 RCV003147304 RCV000762884 RCV003333003 RCV000515221 RCV002496500 RCV000988915 RCV003147308 RCV002054539 RCV000762885 RCV002482942 RCV002490445 RCV004795948 RCV002490446 RCV002504856 RCV002490447 RCV004795949 RCV000515165 RCV000762886 RCV002490448 RCV000762887 RCV003147313 RCV005007952 RCV000037654 RCV002504894 RCV001029946 RCV005012502 RCV001261100	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Pathogenic	rs397507520	RCV001003604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mild intellectual disability	Pathogenic	rs397507542	RCV000626828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic short statue	Pathogenic; Likely pathogenic	rs121918466, rs376607329, rs397507527, rs397507531, rs397507543, rs397507545	RCV005865179 RCV005865201 RCV005865202 RCV005865203 RCV005865204 RCV005865205 RCV005865206	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Pathogenic	rs121918455	RCV005229787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs397507529	RCV001731328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Pathogenic	rs397507545	RCV001374913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs886039463, rs121918461, rs121918463	RCV001376031 RCV001376030 RCV001376066	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Likely pathogenic; Pathogenic	rs727503380, rs121918461, rs121918453, rs727503381, rs121918463, rs397507539, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918459, rs121918462, rs121918466, rs121918469, rs121918470, rs267606990, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507514, rs397507517, rs397507518, rs397507520, rs397507523, rs397507525, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507542, rs397507543, rs397507544, rs397507545, rs397507547, rs397507548, rs397507549, rs1398859175, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397507550, rs2135862010, rs2540415624, rs2540415689	RCV000151687 RCV000156008 RCV000824740 RCV000151696 RCV001261017 RCV001261020 RCV000157001 RCV000157006 RCV000156977 RCV000037669 RCV000824744 RCV000156993 RCV000824738 RCV000157014 RCV000033543 RCV000157000 RCV000156985 RCV000037663 RCV000037641 RCV000824746 RCV000824752 RCV000211847 RCV000157002 RCV000037621 RCV000154561 RCV000037626 RCV000037627 RCV000037629 RCV000211846 RCV000151684 RCV000037631 RCV000599619 RCV000037633 RCV000151689 RCV000037635 RCV000037639 RCV000037638 RCV000157021 RCV000037645 RCV000824742 RCV000521568 RCV000824743 RCV000037657 RCV000037658 RCV000037660 RCV000824745 RCV000037661 RCV000037662 RCV000037664 RCV000037668 RCV000208219 RCV000157010 RCV000037617 RCV000156989 RCV000824747 RCV000824748 RCV000037618 RCV000033542 RCV000037619 RCV000824750 RCV000157015 RCV000156983 RCV001849289 RCV000824751 RCV000625873 RCV000037634 RCV000037637 RCV000037640 RCV000037656 RCV000037659 RCV000037665 RCV001261024 RCV001261101 RCV001261097 RCV001261098 RCV001261099 RCV001261023	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 1	Likely pathogenic; Pathogenic	rs2038154558, rs1566186813, rs727503380, rs121918453, rs727503381, rs397507512, rs121918464, rs121918463, rs397507539, rs397507542, rs2038442836, rs886039463, rs1555267558, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs2540457138, rs1052382672, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397516802, rs397516810, rs1592852902, rs397507536, rs2038706856	RCV002503431 RCV002288423 RCV004562306 RCV000995620 RCV006249598 RCV004593995 RCV002288669 RCV005867960 RCV001002766 RCV002471444 RCV004786806 RCV001330779 RCV003333580 RCV000014252 RCV000014253 RCV000014254 RCV000014255 RCV000577894 RCV000014257 RCV000014258 RCV000106323 RCV000014260 RCV000014261 RCV000014262 RCV000014263 RCV000014268 RCV001089941 RCV001281363 RCV001254107 RCV000014273 RCV000014274 RCV000014277 RCV003514654 RCV005869616 RCV004796235 RCV001330777 RCV002287349 RCV000995619 RCV002470725 RCV000768061 RCV001358687 RCV000037630 RCV002490444 RCV000416546 RCV004698420 RCV000576434 RCV005867808 RCV002052009 RCV004795946 RCV003150933 RCV003152671 RCV000762884 RCV000856760 RCV001261998 RCV004771457 RCV001089572 RCV000995621 RCV000357736 RCV000585640 RCV000991103 RCV002496500 RCV000106324 RCV000234910 RCV001729355 RCV001283770 RCV001027860 RCV000762885 RCV002482942 RCV000660240 RCV000984919 RCV002490446 RCV001002769 RCV000722171 RCV000494687 RCV002260947 RCV002227049 RCV000515165 RCV000660241 RCV001330778 RCV000677652 RCV004554638 RCV000679882 RCV002490449 RCV003313932 RCV003996327 RCV002504894 RCV002288537 RCV000414941 RCV005867841 RCV000995622 RCV003989616 RCV003514461 RCV001261995 RCV001268963	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome 3	Likely pathogenic; Pathogenic	rs727503380, rs121918455, rs121918459, rs121918466, rs121918470, rs397507506, rs397507510, rs397507512, rs397507518, rs397507520, rs397507531, rs397507549, rs397516810	RCV000589756 RCV000588570 RCV000588678 RCV000590740 RCV000586289 RCV000587067 RCV000589874 RCV000586528 RCV000589214 RCV000585988 RCV000586058 RCV000589512 RCV000587757	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs121918453, rs121918464, rs397507539, rs886039463, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918469, rs1052382672, rs397507501, rs397507504, rs397507505, rs397507506, rs397507509, rs397507510, rs397507514, rs397507517, rs397507518, rs397507520, rs397507529, rs397507537, rs397507540, rs397507541, rs397507542, rs397507545, rs121918470	RCV001813395 RCV001813410 RCV001813411 RCV001813438 RCV001813190 RCV001813191 RCV001813192 RCV001813193 RCV001813194 RCV001813195 RCV001813196 RCV001813197 RCV001813198 RCV001813199 RCV001813200 RCV001813201 RCV001813202 RCV001813203 RCV000788007 RCV001813241 RCV000788006 RCV001813242 RCV001813243 RCV001813244 RCV001813245 RCV001813246 RCV001813247 RCV001813248 RCV001813249 RCV001813250 RCV001813251 RCV001813256 RCV001813257 RCV001813258 RCV001813259 RCV001813260 RCV001813261 RCV001813372 RCV001813585	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome with multiple lentigines	Pathogenic; Likely pathogenic	rs121918456, rs121918457, rs121918468, rs121918469, rs121918470, rs121918453, rs397507523, rs397507527, rs397507529, rs397507537, rs397507541, rs397507542, rs397507548, rs397507549	RCV000030620 RCV000208002 RCV000037611 RCV000824746 RCV000520822 RCV003103718 RCV000824743 RCV004700300 RCV000824745 RCV000037612 RCV001804754 RCV000824747 RCV000824748 RCV000154371 RCV000824751	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pectus excavatum	Pathogenic	rs397507520	RCV001003604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pigmentary skin disorders	Pathogenic	rs121918470	RCV006261937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic astrocytoma	Likely pathogenic; Pathogenic	rs121918453, rs886039463, rs121918459, rs121918463	RCV006253839 RCV006253932 RCV006253545 RCV006253546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Pathogenic	rs397507520	RCV001003604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PTPN11-related disorder	Likely pathogenic; Pathogenic	rs727503381, rs2540425549, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918463, rs121918466, rs121918468, rs121918469, rs121918470, rs923052172, rs397507501, rs397507504, rs397507505, rs397507507, rs397507509, rs397507510, rs397507512, rs397507514, rs397507520, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507540, rs397507541, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550	RCV004734709 RCV004529793 RCV004541002 RCV004532339 RCV004528108 RCV004532340 RCV004532341 RCV000723326 RCV004532342 RCV004528109 RCV004532343 RCV004532344 RCV004532345 RCV004532346 RCV004541003 RCV004734518 RCV004725202 RCV005222713 RCV004528152 RCV004532483 RCV004532484 RCV005229843 RCV004724759 RCV004532485 RCV004532486 RCV004734537 RCV004528153 RCV000723292 RCV004545735 RCV003387505 RCV004734538 RCV004532490 RCV004532491 RCV004532492 RCV004532493 RCV004532494 RCV004532495 RCV004532496 RCV004541060 RCV004545736 RCV004532497 RCV004527734 RCV004528333	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RASopathy	Pathogenic; Likely pathogenic	rs2135902177, rs2038154558, rs2135856266, rs2135916018, rs2135862367, rs397507546, rs121918461, rs121918453, rs727503381, rs397507505, rs121918464, rs121918463, rs397507539, rs2038442836, rs397507513, rs2135916511, rs727503380, rs2540452270, rs2135867567, rs748952554, rs2540425577, rs2135866938, rs2540415610, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918457, rs121918458, rs121918459, rs121918462, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606989, rs267606990, rs2135915222, rs2499756229, rs1013419211, rs397507507, rs1555267558, rs1052382672, rs397507501, rs397507503, rs397507504, rs397507506, rs397507508, rs397507509, rs397507510, rs397507511, rs397507512, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507540, rs397507541, rs397507542, rs397507543, rs397507544, rs397507545, rs397507547, rs397507548, rs397507549, rs397507550, rs397516801, rs397516803, rs397516807, rs397516810, rs1391791847, rs765642157, rs1566186833, rs397509345, rs397507536, rs2038105603, rs2038127324, rs2038713813, rs2038103354, rs2038606313, rs2038125958, rs2540416086	RCV001384646 RCV001964503 RCV001972154 RCV001977628 RCV001900611 RCV000149849 RCV000780656 RCV000154367 RCV000654965 RCV001174933 RCV002281971 RCV001526955 RCV002515083 RCV003041175 RCV002623226 RCV002577202 RCV002823966 RCV002856223 RCV002816446 RCV002853422 RCV002876768 RCV003013822 RCV003041131 RCV000033471 RCV000707460 RCV000033516 RCV000033518 RCV000033504 RCV000033466 RCV000033464 RCV000033533 RCV001851849 RCV000033468 RCV000033475 RCV000458650 RCV000781775 RCV000033480 RCV000529342 RCV000033531 RCV000033554 RCV000780654 RCV002513041 RCV001205820 RCV000694389 RCV003539611 RCV003540107 RCV003540157 RCV003540328 RCV001201204 RCV000534502 RCV000531774 RCV000227194 RCV000809051 RCV000557839 RCV000456871 RCV000234028 RCV000556984 RCV000588173 RCV001219186 RCV000033460 RCV000459297 RCV005089335 RCV000033463 RCV000687319 RCV002001115 RCV000033469 RCV000686123 RCV001852674 RCV003654180 RCV000033478 RCV000472904 RCV000033483 RCV000815390 RCV001221785 RCV000033490 RCV000033491 RCV000033497 RCV000033498 RCV000522926 RCV000526885 RCV000477501 RCV000703823 RCV000033505 RCV001852676 RCV000231840 RCV000033513 RCV001193110 RCV001060541 RCV000231162 RCV000694590 RCV000033536 RCV001378165 RCV000033538 RCV000033539 RCV000033540 RCV000466382 RCV001731329 RCV000781773 RCV000033545 RCV000033546 RCV000532971 RCV000033549 RCV000033550 RCV000033553 RCV000521890 RCV002514147 RCV000206837 RCV003764672 RCV003654184 RCV000587886 RCV000687570 RCV002531416 RCV002544702 RCV000697357 RCV000692146 RCV002513672 RCV000049230 RCV001064303 RCV001056808 RCV001210345 RCV001211975 RCV001207607 RCV001235274 RCV001238086 RCV001241165 RCV002537612	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rosette-forming glioneuronal tumor	Likely pathogenic; Pathogenic	rs121918453	RCV006253840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scoliosis	Pathogenic	rs397507542	RCV000626828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Pathogenic; Likely pathogenic	rs121918461, rs397507540	RCV000626829 RCV001730478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific learning disability	Pathogenic	rs397507542	RCV000626828	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Likely pathogenic; Pathogenic	rs397507540	RCV001730478	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic	rs28933386	RCV001270562	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular disorder	Pathogenic	rs121918462	RCV005624687	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular tachycardia	Likely pathogenic	rs1592847299	RCV000852441	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute megakaryoblastic leukemia in down syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic right ventricular cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical teratoid rhabdoid tumor	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardio-facio-cutaneous syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOFACIOCUTANEOUS SYNDROME	—	CTD, ClinGen CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COSTELLO SYNDROME	—	CTD, ClinGen CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ewing sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSES, MULTIPLE HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRITIS, ATROPHIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAFFUCCI SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATION OF AURICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplastic disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Conflicting classifications of pathogenicity	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibroma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatosis-Noonan syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDROMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATENT DUCTUS ARTERIOSUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ventricular contraction	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proportionate short stature	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE INSUFFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Werner syndrome	risk factor; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	30355600	Associate	★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	14982869, 18328949, 21930766, 27859216		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15604238, 16533526, 17910045, 20958258, 22315187, 22591685, 24067137, 24072241, 24610751, 25253770, 26855057, 28245838, 28853218		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	14982869, 15842656, 17330262, 26485542		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	27992414		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	27992414		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	16679933		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	26886259, 30764849		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24480804, 27582544		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25730908, 29483824		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	24480804, 27582544		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16533526, 22315187, 22591685, 25253770, 26855057, 28245838		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	15604238		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	18758896		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	23813970, 28035977		★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28059452		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	30693642		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29133942		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	33167018	Associate	★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	24089313		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	15940693		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29703160		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15383603		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23335101	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23057634, 28481957, 29242170		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG	11992261, 16358218, 18372317		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	14729615, 28035384, 31569658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	32859279, 35778969	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	29703160		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	18241070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	37263975	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	LHGDN	17515436		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	24534818, 30784236		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	22781091	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	17211494, 18712962, 19589142, 22788847	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27183387		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	35778969	Associate	★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	BEFREE	25425531		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	25425531		★☆☆☆☆ Found in Text Mining only
B lymphoblastic leukemia lymphoma, no ICD-O subtype	B Lymphoblastic Leukemia Lymphoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	18728972, 30999581		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	18728972		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	17479159		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	25047104		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG	11992261, 12960218, 16124853, 19077116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	BEFREE	27521173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	12161469		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	GENOMICS_ENGLAND_DG	28587547		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	20577567	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	37525886	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	18241070		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	38545656	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	37960778	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	36973520	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14584041, 18643929, 19261604, 22388088, 25736378, 26088100, 26673822, 27362227, 28208810, 28259915, 28551626, 30584278, 31300938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	17537730, 23672411, 33755016, 35365185, 35739379, 36969745	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35802774	Inhibit	★☆☆☆☆ Found in Text Mining only
Bundle-Branch Block	Bundle Branch Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Ulerythema ophryogenesis	BEFREE	30417923		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21695063, 26158864, 26695153, 37344519	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25198338, 28460481	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25198338, 35503714	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	26317919	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	26088100		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20406974, 23822953, 24480804, 26088100, 29207183, 31413587		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26695153	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26911335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35802774	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23822953	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28814887, 30755818		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	18159945, 22278918		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	12384786, 12529707, 12634870, 12752577, 18456719, 20186801, 28650561		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CTD_human_DG	17703371		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG	21063443		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	31560489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomegaly	Cardiomegaly	Pubtator	30732632	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	15001945, 26757980, 31368652		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	25884655, 26337637		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	29030401, 36357925	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	11992261, 22585553, 29030401, 29696744, 30732632, 30784236, 32150461, 32824488, 37466024, 38277535	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	18643929		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21567923		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	37644056	Associate	★☆☆☆☆ Found in Text Mining only
Cartilaginous exostosis	Osteochondroma	CTD_human_DG	20577567		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25425531		★☆☆☆☆ Found in Text Mining only
Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36691064	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18543080		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	18543080		★☆☆☆☆ Found in Text Mining only
Cherubism	Cherubism	BEFREE	17120035, 17762617		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16533526, 17910045, 22315187, 22591685, 25253770, 26855057, 28245838		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	15385933, 15842656, 26485542		★☆☆☆☆ Found in Text Mining only
Childhood Cerebral Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	23813970, 28035977		★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	29373887	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	37024492	Associate	★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	BEFREE	17351342		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	15928039, 20029231, 21930766, 22806893, 24860972, 25097206, 26286251, 27783593, 27840422, 28804122, 28975680		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	26456833	Associate	★☆☆☆☆ Found in Text Mining only
Chylothorax	Chylothorax	Pubtator	36544606	Associate	★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19077116, 33119062	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	27796759, 30089263		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	16012947, 23530062, 27582544, 27935860, 30376595, 30610104		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19160029	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16012947, 24439672, 26365186, 29931053, 30610104		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27582544, 29242509, 29323748, 31598397		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21528083, 28675510, 29693170, 34083590, 38358185	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27582544		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22585553, 36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of ovary	Aplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	15248152		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	17479159		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16424864, 30466744		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30682488		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	15248152, 15940693, 17515436, 18203203, 22781091, 23045525, 25256404, 25802336, 30024444		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	15940693, 17072672, 17413276, 22278918, 22503907, 22512561		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital insufficiency of pulmonary valve	Congenital Insufficiency Of Pulmonary Valve	CLINVAR_DG	11704759, 11992261, 12161469, 22711529		★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	10378893		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG	11704759, 15834506		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital stenosis of pulmonary valve	Congenital Stenosis Of Pulmonary Valve	CLINVAR_DG	11704759, 11992261, 12161469, 12634870, 15834506, 16166557, 16358218, 17020470, 17641779, 22711529		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	23446178		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28911943		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25123136		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	27997991	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27997991		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	17483702, 30355600, 31560489	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Costello syndrome (disorder)	Costello syndrome	BEFREE	12752577, 17366577, 17483702, 21784453, 26494162		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CTD_human_DG	17703371		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28650561		★☆☆☆☆ Found in Text Mining only
Cryoglobulinemia	Cryoglobulinemia	BEFREE	7595420		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG	11704759, 11992261, 12161469, 22711529		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	21548061, 26607044		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	32164556	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Darier Disease	Darier disease	Pubtator	9529352	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	24891296, 34488904, 35248088	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23335101		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	9348165		★☆☆☆☆ Found in Text Mining only
Delayed menarche	Delayed menarche	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	28729690	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	29217681		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	14644997, 15248152, 16631468, 17177198, 18223690, 18372317, 19622105, 22512561, 24718990, 24935154, 25039348, 25256404, 26742426, 27030275, 29559584		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	14644997, 24891296, 27030275, 32188694, 32871078, 33119062, 33452774, 34411482, 36849876, 36973520, 37344519, 38085330, 38129686	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31490104		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	33424767	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16533526		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27666924	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	18643929		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15248152, 15956085, 16498234, 18663312, 19550387, 19725129, 20578946, 23624134, 26714497, 28983104		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	30013350		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11704759, 1258892, 12960218, 1543375, 16523510, 17056636, 17222357, 19206169, 19467855, 21396583, 21500339, 21533187, 26249544, 26297936, 27521173, 27619028, 4025385, 4386970, 8530013, 9222968		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	21339643		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32144894	Associate	★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	24875294		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	CTD_human_DG	20577567, 21533187		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	21533187		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32619126, 9408887	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32619126	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36973520	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31398269		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28814887		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	29206716		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	27077911		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exostoses Multiple Hereditary	Exostoses	Pubtator	40225915	Associate	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	15248152, 24891296	Associate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor XII Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	27974211		★☆☆☆☆ Found in Text Mining only
Female Pseudo-Turner Syndrome	Noonan syndrome	CTD_human_DG	15273746, 17603482, 17603483, 17703371		★☆☆☆☆ Found in Text Mining only
Fibrillary Astrocytoma	Fibrillary Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29360139		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	36864519	Associate	★☆☆☆☆ Found in Text Mining only
Forebrain Defects	Forebrain Defects	BEFREE	12073012		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	17479159		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	26158864	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	16032704, 17235629, 17323188, 18712962, 22788847, 23455381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	CLINVAR_DG	12717436, 15001945, 15928039, 16358218		★☆☆☆☆ Found in Text Mining only
Gemistocytic astrocytoma	Gemistocytic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	22725657		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30341011		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11593409, 14701753, 19427850, 21934682, 21996738, 28852935, 31232447, 31807022		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	14701753		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	14701753, 21934682, 27579614, 35121903	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11593409, 14701753, 19427850, 21934682, 21996738, 24951116, 26617336, 28852935, 31232447, 31807022		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16631468, 21996738, 26004555, 26617336, 27041571, 28492557, 28620155, 28852935		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28620155, 35484611, 36462464, 37845206	Associate	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	34162346	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	15520399, 15948193, 16358218, 16638574		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	BEFREE	29257282		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Grade I Astrocytoma	Grade I Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	15248152, 16498234, 23624134, 24891296, 30541462, 32164556, 36714562, 37605180	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	30940710		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23363816		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20700123, 23363816, 39596579	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35802774	Inhibit	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19864201, 35248088, 35982127, 37017887	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	15248152, 22503907, 22781091, 30732632, 32144894, 32341405, 35440950, 36496429	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CLINVAR_DG	11992261, 16358218, 22711529		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	14644997, 23321623, 32037394, 32365526, 33452774, 34488904, 39596579	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	15940693		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25256404		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28911943		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	30732632	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	30784236, 35440950	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	14676626, 15385933, 15725481, 16518851, 17177198, 18223690, 18799937, 22591685, 25039348, 28085101, 28098151, 28306669, 29089257		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	15987685, 28098151, 32794475, 34411482, 38129686	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	16371368, 29323748		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	35002956	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	34857025, 37302266, 38236412	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23672411	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	28460481	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18253957		★☆☆☆☆ Found in Text Mining only
Hereditary Multiple Exostoses	Multiple congenital exostosis	CTD_human_DG	21533187		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	19822020	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	18758896		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	29559584		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	15211660		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	23321623, 32144894, 33686258, 35397126, 36959127	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	29605243		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	40514730	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	25042561	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	24037001, 30417923		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21695063	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25820152	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG	11704759, 16358218		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11992261, 12325025, 15889278, 15940693, 16208280, 16488201, 19582499, 19795160, 20578946, 21339640, 21339643, 21910226, 23673659, 23918763, 26286251, 26714497, 28582432, 28768581, 28911943, 30024444, 30784236, 31277675, 31292302		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	12058348, 14961557, 15121796, 15520399, 15712196, 16358218, 16377799, 16638574, 17935252, 18372317, 18849586, 19133693, 19825837, 20308328, 20493809, 20535210, 20883402, 21365175, 21910245, 22190897, 22411627, 22555271, 22585553, 22681964, 23317994, 23457302, 23813970, 24037001, 24451042, 24767283, 24775816, 24935154, 25544017, 25884655, 25917897, 26337637, 27238887, 27484170, 28681392		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic cardiomyopathy without obstruction	Hypertrophic cardiomyopathy	CLINVAR_DG	11704759, 11992261, 12634870, 15834506, 16166557, 17020470, 17641779		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11992261, 12325025, 15889278, 15940693, 16208280, 16488201, 16733669, 19582499, 19795160, 20578946, 21339643, 21910226, 22585553, 23673659, 26286251, 26714497, 30784236, 31277675, 31292302		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASDB_DG	22493691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	33226994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	24860972	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	15868901		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21321078, 30086741		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27736153		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27796759, 30089263		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19160029, 30610104		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19864201	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Diseases	Intestinal disease	Pubtator	19822020	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Astrocytoma	Intracranial Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	34904514	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	18643929		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	10706766, 12717436, 14644997, 14982869, 15211660, 15385933, 15390271, 15561680, 15644411, 15723289, 15725481, 15928039, 16518851, 17268534, 17330262, 17351342, 17353900, 17414570, 18640765, 18799937, 19047918, 19509418, 19528235, 19622105, 19798502, 19874312, 20029231, 20471511, 21451123, 21681782, 21901340, 21930766, 22278918, 22315187, 22315502, 22736231, 23832011, 23918763, 25047104, 25097206, 25420281, 25650089, 26181421, 26440969, 26456833, 27783593, 27840422, 27913534, 28084675, 28098151, 28975680, 29023302, 29774106, 29884903, 30018082, 30026077, 30129165, 31222725, 31244092, 31807902		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CLINVAR_DG	11704759, 11992261, 12161469, 12325025, 12634870, 12717436, 12739139, 12960218, 14644997, 14982869, 15001945, 15240615, 15273746, 15385933, 15604238, 15644411, 15723289, 15834506, 15842656, 15928039, 15987685, 16115145, 16358218, 16377799, 16461457, 16518851, 16533526, 16990350, 17020470, 17177198, 17339163, 17361219, 17910045, 18372317, 18378677, 18470943, 18562489, 18678287, 18758896, 18925961, 19008228, 19020799, 19047918, 19179468, 19251646, 19352411, 19737548, 19773259, 19835954, 20112233, 20651068, 20954246, 21365683, 21407260, 21555152, 22315187, 22371576, 22465605, 22711529, 23334666, 23513489, 23756559, 23832011, 24628801, 24718990, 25097206, 25383899, 28628100		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	LHGDN	12717436, 15928039, 18640765		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	UNIPROT_DG	12717436, 26742426		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	ORPHANET_DG	19571318, 20139388, 21930766, 23832011		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile myelomonocytic leukemia	Myelomonocytic Leukemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	22315502, 26457647		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	29948256	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	9529352		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	30417923		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	17483340, 20554525		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	32341405	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	16733669, 17453145, 18505544, 24865967, 26377839		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	11704759, 18678287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	CLINVAR_DG	11704759, 11992261, 12058348, 12161596, 12634870, 14634749, 14644997, 14961557, 14974085, 15001945, 15121796, 15389709, 15470362, 15520399, 15690106, 15889278, 15928039, 15985475, 15987685, 16358218, 16369799, 16377799, 16638574, 16679933, 16733669, 16804314, 17339163, 17453145, 17875892, 17935252, 18241070, 18372317, 18470943, 18678287, 18849586, 19020799, 19054014, 19077116, 19133693, 19174044, 19273734, 19582499, 19725129, 19768645, 19864201, 20308328, 20493809, 20578946, 20883402, 21339643, 21407260, 21677813, 21747628, 21803945, 21910226, 22058153, 22190897, 22528600, 22555271, 22585553, 22681964, 23799168, 23813970, 24451042, 24628801, 24718990, 24767283, 24935154, 25884655, 29493581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	12058348, 12161596, 14961557, 14991917, 15690106, 16208280, 16358218, 16377799, 16488201, 16523510, 16679933, 16733669, 16987887, 17020470, 17603483, 17935252, 18159945, 18372317, 18799937, 18849586, 18854871, 19568997, 19725129, 19768645, 19864201, 20308328, 20493809, 21339643, 21365175, 21784453, 21910226, 22278918, 22512561, 22585553, 22681964, 23318428, 23457302, 23673659, 24628801, 24718990, 24775816, 24865967, 24935154, 24939587, 25039348, 25178522, 25256404, 25708222, 25884655, 25917897, 26341048, 26377839, 26742426, 26952712, 27484170, 27659786, 28483241, 28911943, 29084544, 29559584, 30640061, 31258001, 31277675, 31634485, 31722741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG	12058348, 15121796, 16638574, 19864201, 20308328, 20493809, 21339643, 21747628, 23875798, 25917897, 26952712		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	Leopard syndrome	Pubtator	12058348, 12161596, 16358218, 18854871, 19864201, 20535210, 22585553, 24628801, 24767283, 24775816, 24891296, 24939587, 25708222, 25917897, 29084544, 30640061, 31277675, 31560489, 32365526, 32871078, 34009903, 34488904	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	LHGDN	12161596, 14991917, 16358218, 16488201, 16523510, 17020470, 17453145, 18159945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEOPARD Syndrome	LEOPARD Syndrome	CTD_human_DG	17603483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leopard Syndrome 1	LEOPARD Syndrome	CLINVAR_DG	11704759, 14974085, 15987685, 16399795, 18253957, 19509418, 20308328, 21340158, 21407260, 21567923, 23726368, 24628801, 24803665, 25912702, 26785492, 27521173, 28483241, 28650561, 28957739		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leopard Syndrome 1	LEOPARD Syndrome	GENOMICS_ENGLAND_DG	11704759, 11992261, 12058348, 14644997, 15389709, 18678287, 28650561		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leopard Syndrome 1	LEOPARD Syndrome	UNIPROT_DG	12058348, 14961557, 15121796, 15389709, 15520399, 15690106, 16679933, 16733669, 24891296, 26742426		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leopard Syndrome 1	LEOPARD Syndrome	CTD_human_DG	17603483		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
leukemia	Leukemia	BEFREE	12826400, 14982869, 15561678, 15834506, 16030196, 16358218, 16371368, 16399795, 16518851, 16631468, 16987887, 17227708, 19622105, 21575863, 22438255, 23103841, 23584145, 23825065, 23884424, 26088100, 26755576, 27362227, 27783593, 27840422, 28126968, 29155585, 30018082, 30457860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	14644997, 14982869, 16030196, 16358218, 17053061, 20510203, 21365683, 23082805, 27030275, 28729690, 31657576, 32188694, 33284559, 34411482, 34896393, 34981560, 35350997	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	15273746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	15834506, 16358218		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid	Myeloid leukemia	Pubtator	14644997, 17942397, 23082805	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	14982869, 18328949, 22131879, 25573287, 27992414, 29437595, 30760869, 33081843, 33730843, 34064268, 34459887, 34847232, 34896393, 35390143, 35562747, 35833755, 35895896, 36318614, 37937729	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	20880116	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	14644997, 14982869, 15928039, 18000165, 19874312, 20408841, 22753870, 23092099, 23620576, 23696637, 23918763, 26316488, 26456833, 26983639, 28098151, 28179213, 29259247, 29884903, 31657576, 31807902, 33139265, 37445722	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	26886259	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12717436, 15385933, 15604238, 15749679, 15842656, 16124853, 16489085, 16688229, 17330262, 19022774, 21930766, 22278918, 23103841, 25573287, 25650089, 26485542, 26666262, 28152414, 29437595, 29970518, 30018082, 30692594, 30764849, 31682240		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12717436, 15385933		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	27992414		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	15725481		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	LHGDN	15725481		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24931737, 26088100		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18223690, 21575863, 25198338, 25823821, 27894814, 28460481, 29505847, 31293973, 31610028		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	27974211, 29505847		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	35503714	Associate	★☆☆☆☆ Found in Text Mining only
Lumbar scoliosis	Lumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23822953, 26056041, 37339995, 37445722, 38280930	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	25730908		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	27183387		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31616406	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	27183387		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27183387		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	30573655		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	27183387		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	BEFREE	18759865, 27193571		★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23321164, 27614952, 38358185	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24439919	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	22529953	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	24610751		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19798502, 25193962		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	Pubtator	25193962	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	24885312		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	12543077		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	12543077		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	35186229	Associate	★☆☆☆☆ Found in Text Mining only
Maffucci Syndrome	Maffucci Syndrome	CTD_human_DG	20577567, 21533187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maffucci Syndrome	Maffucci Syndrome	BEFREE	21533187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Majeed syndrome	Majeed Syndrome	BEFREE	17762617		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	36226386	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	26855057		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29599344		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23363816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18643929, 19261604, 22388088, 25736378, 26088100, 26673822, 27362227, 28208810, 28551626, 29155585, 30584278, 31300938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	26088100		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26088100, 28059452, 31300938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20406974, 23822953, 24480804, 26088100, 29207183, 31413587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24931737, 26088100		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28814887, 30755818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23271399, 27213290		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28881828		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17211494, 19589142, 19822020, 22788847, 23321164, 23455381, 24439672, 24510342, 26088100, 27614952		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29706844, 31686812		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14644997, 14676626, 14982869, 15604238, 15842656, 15951301, 15987685, 16032704, 16518851, 16631468, 17118755, 17138561, 17211612, 17227708, 18758896, 19029944, 19271114, 19622105, 21407260, 22228034, 22713086, 23103841, 23825065, 24297342, 24480804, 24931737, 25039348, 26088100, 26204488, 26341048, 26365186, 26673822, 26755576, 27030275, 27362227, 27505669, 27582544, 27935860, 28208810, 28306669, 28814887, 29100798, 29155585, 29214238, 29304282, 29795405, 29808006, 29947013, 29983715, 30018082, 30045908, 30104724, 30186742, 30279193, 30375388, 30376595, 30398108, 30430347, 30685130, 30688459, 30755818, 30972278, 31219622, 31268558, 31300938, 31708921, 31805633, 31838080		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18543080		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24439672, 26365186, 29931053, 30610104		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18643929, 20855525, 22388088		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	33226994	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	29498772		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	23813970, 28035977		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28035977	Associate	★☆☆☆☆ Found in Text Mining only
Megalencephaly cutis marmorata telangiectatica congenita	Megalencephaly Cutis Marmorata Telangiectatica Congenita	BEFREE	24939587		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16631468, 24088816, 27650545, 27930879, 29795405, 30355677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	25917897, 28870692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metachondromatosis	Metachondromatosis	CLINVAR_DG	11704759, 14974085, 15987685, 16399795, 18253957, 19509418, 20308328, 20577567, 21340158, 21407260, 21533187, 21567923, 23726368, 24628801, 24803665, 25912702, 26785492, 27521173, 28483241, 28650561, 28957739		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Metachondromatosis	GENOMICS_ENGLAND_DG	14644997, 28587547		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Metachondromatosis	BEFREE	21533187, 24875294, 25178522, 26341048, 28983104		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Metachondromatosis	ORPHANET_DG	21533187		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Metachondromatosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metachondromatosis	Metachondromatosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	BEFREE	30940710		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	22420426		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed oligoastrocytoma	Oligoastrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	20882436		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	24439919	Associate	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	25283271		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	25283271		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11704759, 1258892, 12960218, 1543375, 16523510, 17056636, 17222357, 19206169, 19467855, 21396583, 21500339, 21533187, 26249544, 26297936, 27521173, 27619028, 4025385, 4386970, 8530013, 9222968		★☆☆☆☆ Found in Text Mining only
Multiple digital exostoses	Multiple digital exostoses	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	LHGDN	12959980		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	BEFREE	12058348, 12161596, 18470943, 24401936, 25917897		★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10880513, 28369102, 29884741	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28369102, 31337650		★☆☆☆☆ Found in Text Mining only
Multiple nevi	Multiple Nevi	CLINVAR_DG	11704759, 15834506		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29217681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple System Atrophy	Multiple system atrophy	Pubtator	36973520	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	34831413	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	18799937		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	11681412, 12717436, 15725481, 17330262, 18799937, 19414193, 24212846, 24674452, 28191591		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	12717436, 15725481, 16598312		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	24212846, 27884971, 27992414, 32476595, 36380727, 40725152	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	20955399		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	2004017, 20882436, 28804122, 30290167		★☆☆☆☆ Found in Text Mining only
Myelomonocytic leukemia	Myelomonocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	15928039, 16369799, 16371368, 20029231, 21451123, 22806893, 24860972, 26286251, 28729690, 28804122		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorder Chronic with Eosinophilia	Myeloproliferative disorder	Pubtator	35778969	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	15928039, 28729690	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	31598397		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19207402		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	Pubtator	23950869	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25109634		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	25109634, 36107539	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15604238, 16518851, 17341634, 18223690, 18632564, 18643929, 19681119, 21169408, 21575863, 21996738, 22869052, 23321164, 23884424, 24439672, 24480804, 24875294, 24931737, 25198338, 25263441, 25650089, 25823821, 26728598, 27003603, 27362227, 27582544, 27683039, 27930879, 27974211, 28035384, 28085101, 28098905, 28208810, 28329685, 28423588, 28460481, 28551626, 28804122, 28852935, 29085371, 29133942, 29155585, 29242509, 29617671, 29703018, 29706844, 29795405, 29808009, 30605687, 30685130, 30785643, 30972278, 31268558, 31598397, 31807022, 8943868, 9444400		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	BEFREE	15470362		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15604238, 16518851, 16631468, 18328949, 27362227, 28329685, 28947394, 29189514		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	18328949, 37161925	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	23334666		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25672415, 37960778	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28947394, 30341011		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	36430334	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
neurofibroma	Neurofibroma	BEFREE	19449407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurofibromatoses	Neurofibromatosis	BEFREE	17353900, 19449407, 19798502, 21681782		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15948193, 16380919, 16523510, 17103458, 17120035, 17353900, 19047918, 19449407, 19798502, 19845691, 21365175, 22847776, 24357598, 25884655, 8943868		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis-Noonan syndrome	Neurofibromatosis-Noonan Syndrome	BEFREE	16380919, 17020470, 19449407, 24357598		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	32590748, 33452215	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26952712		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	10378893	Stimulate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22777356, 24480804, 29207630, 29505033, 29808006, 29808009, 30473379, 30685130, 31413587		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	27974211		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	11704759, 11992261, 12058348, 12161469, 12161596, 12325025, 12384786, 12529711, 12634870, 12707950, 12717436, 12826400, 14644997, 14676626, 14974085, 14982869, 15001945, 15211660, 15240615, 15248152, 15384080, 15470362, 15521065, 15539800, 15604238, 15690106, 15723289, 15834506, 15889278, 15928039, 15940693, 15956085, 15985475, 16032767, 16053901, 16078230, 16124853, 16166557, 16208280, 16263833, 16358218, 16369799, 16377799, 16380919, 16399795, 16474405, 16498234, 16518851, 16523510, 16533526, 16631468, 16804314, 16830086, 16987887, 17020470, 17052965, 17056636, 17103458, 17143282, 17143285, 17177115, 17177198, 17339163, 17413276, 17515436, 17598979, 17603482, 17603483, 17641779, 17661820, 18203203, 18253957, 18328949, 18331608, 18348260, 18378677, 18562489, 18651097, 18758896, 18759865, 18799937, 18958496, 19017799, 19020799, 19207402, 19352411, 19407499, 19438935, 19509418, 19568997, 19582499, 19622105, 19737548, 19760651, 19795160, 19875288, 19927903, 19938085, 19953625, 20006740, 20029239, 20064076, 20170098, 20186050, 20578946, 20673819, 20954246, 21068439, 21407260, 21548061, 21567923, 21590266, 21681782, 21784453, 22278918, 22315187, 22420426, 22503907, 22512561, 22589294, 22681964, 22711529, 22725657, 22777296, 22847776, 22887781, 22887833, 22985731, 23182818, 23318428, 23446178, 23584145, 23624134, 23726368, 23771920, 23786871, 23825065, 24072241, 24089313, 24150203, 24183200, 24225993, 24628801, 24718990, 24865967, 24891296, 24935154, 25039348, 25097206, 25156961, 25178522, 25283271, 25425531, 25611800, 26088100, 26286251, 26341048, 26456833, 26607044, 26742426, 26755576, 26817465, 26903553, 27362227, 27736153, 27783593, 27796759, 27939989, 28074573, 28084675, 28328117, 28346493, 28366775, 28607217, 28650561, 28768581, 28921562, 29084544, 29125030, 29214238, 29559584, 29575624, 29659837, 29703613, 30024444, 30059958, 30089263, 30186742, 30304563, 30417923, 30541462, 30665336, 30693642, 30837304, 31132774, 31219622, 31277675, 31292302, 31368652, 31562133, 31784318, 31837205		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINVAR_DG	11704759, 11992261, 12058348, 12161469, 12161596, 12325025, 12529711, 12634870, 12717436, 12739139, 12960218, 14634749, 14644997, 14961557, 14974085, 14982869, 15001945, 15009076, 15121796, 15240615, 15273746, 15385933, 15520399, 15604238, 15689434, 15690106, 15712196, 15723289, 15834506, 15842656, 15889278, 15928039, 15956085, 15985475, 15987685, 15996221, 16115145, 16124853, 16166557, 16263833, 16358218, 16369799, 16377799, 16399795, 16461457, 16498234, 16533526, 16631468, 16638574, 16643459, 16679933, 16733669, 16804314, 16830086, 16892325, 16990350, 17020470, 17053061, 17177198, 17339163, 17361219, 17453145, 17497712, 17546245, 17641779, 17661820, 17875892, 17910045, 17972951, 18241070, 18286234, 18328949, 18331608, 18372317, 18378677, 18470943, 18562489, 18678287, 18758896, 18759865, 18849586, 19008228, 19017799, 19020799, 19047918, 19077116, 19120036, 19125092, 19251646, 19273734, 19352411, 19449407, 19582499, 19706403, 19725129, 19737548, 19768645, 19795160, 19835954, 19927903, 20030748, 20112233, 20186801, 20237506, 20308328, 20383758, 20578946, 20651068, 20718194, 20954246, 20979190, 21204800, 21248739, 21339643, 21340158, 21365683, 21407260, 21567923, 21590266, 21677813, 21747628, 21803945, 21910226, 22058153, 22190897, 22315187, 22371576, 22420426, 22465605, 22494877, 22681964, 22711529, 22781091, 22848035, 23321623, 23513489, 23584145, 23624134, 23756559, 23832011, 23917401, 24030381, 24039098, 24150203, 24219368, 24225993, 24451042, 24628801, 24718990, 24803665, 25097206, 25337068, 25383899, 25914815, 26817465, 27460089, 27884971, 28074573, 28628100, 29084544, 29493581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	11704759, 12529711, 15273746, 16358218, 16399795, 19795160, 20718194, 23446178, 23875798, 24736444, 25804457, 26817465, 28074573		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	GENOMICS_ENGLAND_DG	11704759, 15389709, 18678287, 23875798, 23926459, 28297620, 28587547		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	LHGDN	11992261, 12161469, 12161596, 12325025, 15240615, 15539800, 15834506, 15928039, 15956085, 15985475, 16358218, 17052965, 17339163, 17453145, 18203203, 19020799, 19189703		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	11992261, 12058348, 12161596, 12529707, 14644997, 14982869, 15248152, 15928039, 15987685, 16358218, 16498234, 16990350, 17056636, 17339163, 17483702, 18328949, 18854871, 19077116, 19352411, 19760651, 20186801, 20602484, 21365683, 21407260, 22253195, 22465605, 22503907, 22605701, 22711529, 22777296, 23321623, 23624134, 23726368, 23756559, 23771920, 24183200, 24219368, 24220280, 24628801, 24754368, 24891296, 24939587, 25611800, 26084119, 26444854, 26456833, 28607217, 28921562, 29084544, 29848529, 29907801, 29948256, 30059958, 30541462, 30784236, 31277675, 31292302, 31560489, 31657576, 31936901, 32144894, 32164556, 32394265, 32493428, 32546215, 32721402, 32824488, 32867556, 33119062, 33167018, 33686258, 34009903, 34032360, 34136918, 34904514, 35002956, 35778409, 36349709, 36430334, 36544606, 36566191, 36973520, 37302266, 37407569, 37525886, 37588986, 38160629, 38236412, 38254922, 39596579, 39596663, 40514730	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	CTD_human_DG	15273746, 17603482, 17603483, 17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	19760651		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome	Noonan Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	38085330	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	UNIPROT_DG	11704759, 11992261, 12161469, 12325025, 12529711, 12634870, 12717436, 12739139, 12960218, 15384080, 15889278, 15948193, 19020799, 24891296, 28074573		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	GENOMICS_ENGLAND_DG	11704759, 11992261, 14644997, 15389709, 18678287, 23875798, 28650561, 30266093		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG	11704759, 12058348, 12161469, 12717436, 14644997, 14676626, 14974085, 15385933, 15539800, 15723289, 15725481, 15889278, 15948193, 15987685, 16358218, 16377799, 16399795, 17020470, 17222357, 17227708, 17339163, 17546245, 17910045, 18253957, 18331608, 18454468, 19063751, 19509418, 19582499, 20308328, 21340158, 21407260, 21567923, 21677813, 21803945, 22058153, 23726368, 24628801, 24767283, 24803665, 25912702, 26785492, 27238887, 27521173, 27659786, 28483241, 28650561, 28681392, 28957739, 31064749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	BEFREE	12325025		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CTD_human_DG	15273746, 17603482, 17603483, 17703371		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 3	Noonan Syndrome	CLINVAR_DG	11992261, 12325025, 12634870, 12717436, 12960218, 14644997, 15001945, 15248152, 15385933, 15389709, 15520399, 15604238, 15689434, 15690106, 15710330, 15723289, 15761018, 15834506, 15842656, 15928039, 15956085, 15985475, 15987685, 15996221, 16358218, 16377799, 16467864, 16498234, 16638574, 16804314, 16990350, 17020470, 17339163, 17546245, 17661820, 17972951, 18241070, 18470943, 18505544, 18678287, 18759865, 18854871, 19020799, 19047918, 19077116, 19120036, 19179468, 19737548, 20112233, 20186801, 20308328, 20578946, 20931536, 20954246, 21677813, 21680795, 21744363, 21784453, 22058153, 22190897, 22465605, 22488759, 22681964, 22781091, 23321623, 23756559, 24030381, 24150203, 24451042, 24458522, 24821303, 24931631, 25097206, 25253770, 25395418, 25708222, 25914815, 26607044, 27069254, 27276561, 27683039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome with multiple lentigines	Noonan syndrome with multiple lentigines	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	Noonan Syndrome-Like Disorder With Or Without Myelomonocytic Leukemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	15868901		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15520383		★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	38050610	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	30541462	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondroma	Osteochondroma	Pubtator	29373887, 37525886, 40225915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	BEFREE	28983104		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	29046360		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	25593124, 28983104		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35024182	Associate	★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	BEFREE	17515436		★☆☆☆☆ Found in Text Mining only
Ostium secundum atrial septal defect	Secundum atrial septal defect	CLINVAR_DG	29555671		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	32619126	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28814887, 30755818		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23271399, 27213290		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29808009		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23271399		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	19020799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG	29555671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	18712962	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	34601942	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	31285632		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	36226386	Associate	★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19621452		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilocytic Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilomyxoid astrocytoma	Pilomyxoid Astrocytoma	BEFREE	25585602		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	26491227	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	36226386	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16533526, 30398108		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15604238, 22315187, 24067137, 24072241, 24610751, 28853218		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17910045		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	26341754		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progesterone Resistance	Progesterone Resistance	BEFREE	28424251		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28881828		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23192641	Associate	★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	29189514		★☆☆☆☆ Found in Text Mining only
Protoplasmic astrocytoma	Protoplasmic Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17509057		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	27521173		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30086741		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27736153, 30108215		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG	11704759, 11992261, 12161469, 22711529		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	12325025, 20578946, 21590266, 22985731, 24534818, 28768581, 30784236, 31115199, 31292302		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Refractive amblyopia	Ametropic amblyopia	CLINVAR_DG	11992261, 16358218, 18372317		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	31461650		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	16518851, 16631468, 19681119		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12966589, 15383603, 23335101, 28898718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	BEFREE	30665336		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	CLINVAR_DG	29555671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	30102570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	27077911	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	21068439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	27992414		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36973520	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	18470943, 23318428		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septal hypertrophy	Septal Hypertrophy	CLINVAR_DG	11992261, 12960218, 16124853, 19077116		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30905847		★☆☆☆☆ Found in Text Mining only
SHORT syndrome	Short syndrome	Pubtator	32546215	Associate	★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	15919908, 29587786, 31805964		★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	12161596	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28423588		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23822953		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	26432044		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28085101		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20700123, 24439919, 25980437, 26204488, 34663837, 38231444	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	20700123		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31398269		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	30541462	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17211494, 19589142, 19822020, 22788847, 23321164, 23455381, 24439672, 26088100, 27614952		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	23455381		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17211494, 19589142, 19822020, 22325465, 22788847, 23321164, 23382639, 23464450, 26158864, 27614952	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26158864	Inhibit	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strawberry nevus of skin	Strawberry Nevus Of Skin	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	CTD_human_DG	23817572		★☆☆☆☆ Found in Text Mining only
Supravalvular aortic stenosis	Supravalvar aortic stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	18241070		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	18241070		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	22503907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	22503907	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	GWASDB_DG	23297363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	26990535	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	32144894, 34904514	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	34904514	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37302266, 38236412, 38358185	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29706844, 29953894, 31686812		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29706844, 31686812		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33413561	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	29706844		★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	29084544	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	CLINVAR_DG	29555671		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22388088, 24931162, 25885600, 26728598		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25885600, 34389690, 36788078	Associate	★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	31598397		★☆☆☆☆ Found in Text Mining only
Turner Syndrome, Male	Turner Syndrome, Male	CTD_human_DG	15273746, 17603482, 17603483, 17703371		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19160029, 23530062, 30376595		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18543080	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31500245		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	35778969	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	17641779		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	27562378		★☆☆☆☆ Found in Text Mining only
Waisman syndrome	Waisman syndrome	BEFREE	25934792		★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	29282323		★☆☆☆☆ Found in Text Mining only