MEFV (MEFV innate immunity regulator, pyrin)

Gene

• Entrez ID: 4210
• Gene name: MEFV innate immunity regulator, pyrin
• Gene symbol: MEFV
• Synonyms (NCBI Gene): FMF, MEF, PAAND, TRIM20
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3743930	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Missense variant, stop gained, non coding transcript variant, intron variant, coding sequence variant
rs11466016	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs11466018	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs11466023	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs11466024	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs11466026	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs11466045	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs28940578	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs28940579	A>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs28940580	C>A,G,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs61732874	C>A,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs61752717	T>A,C	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs61754767	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs74346519	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs75977701	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895076	T>A,G	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895079	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895080	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895081	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895083	G>C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895085	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs104895089	T>C,G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs104895091	CAT>-	Conflicting-interpretations-of-pathogenicity, pathogenic	Inframe deletion, genic downstream transcript variant, downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs104895093	TAT>-	Likely-pathogenic, uncertain-significance, pathogenic	Inframe deletion, genic downstream transcript variant, downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs104895094	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs104895097	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs104895105	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104895112	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs104895128	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs104895151	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs104895155	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs104895179	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs104895198	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs104895208	C>A,G	Likely-pathogenic, not-provided	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs142352887	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, downstream transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs145637617	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs146820856	G>A,C	Conflicting-interpretations-of-pathogenicity, not-provided, benign	Intron variant
rs150819742	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs387907570	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant, downstream transcript variant
rs747515115	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs747811800	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs751454741	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs755659290	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs780770024	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs876660990	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, stop gained, intron variant
rs876660995	C>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs876660996	C>T	Pathogenic	Splice donor variant, non coding transcript variant
rs876660997	->A	Likely-pathogenic, uncertain-significance	Downstream transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1057519328	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1301893365	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1306636942	T>A,G	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, coding sequence variant, non coding transcript variant
rs1328913013	C>A,T	Likely-pathogenic	Splice donor variant
rs1355225244	AG>-	Likely-pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant, frameshift variant
rs1555458284	CAT>TAC	Pathogenic	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733341	hsa-miR-197-3p	ELISA, qRT-PCR	33436947
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142347	hsa-miR-3122	CLIP-seq
MIRT1142348	hsa-miR-3147	CLIP-seq
MIRT1142349	hsa-miR-3160-3p	CLIP-seq
MIRT1142350	hsa-miR-3165	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT1142352	hsa-miR-3197	CLIP-seq
MIRT1142353	hsa-miR-3622a-3p	CLIP-seq
MIRT1142354	hsa-miR-3622b-3p	CLIP-seq
MIRT1142355	hsa-miR-3656	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT1142359	hsa-miR-3913-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142361	hsa-miR-4325	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142363	hsa-miR-4425	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142367	hsa-miR-4487	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142369	hsa-miR-4708-5p	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142373	hsa-miR-4786-5p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142375	hsa-miR-4794	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT1142378	hsa-miR-544b	CLIP-seq
MIRT1142379	hsa-miR-558	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142381	hsa-miR-1227	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT1142383	hsa-miR-128	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142384	hsa-miR-1908	CLIP-seq
MIRT1142385	hsa-miR-216b	CLIP-seq
MIRT1142386	hsa-miR-24	CLIP-seq
MIRT1142387	hsa-miR-300	CLIP-seq
MIRT1142349	hsa-miR-3160-3p	CLIP-seq
MIRT1142388	hsa-miR-3613-3p	CLIP-seq
MIRT1142389	hsa-miR-3650	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142391	hsa-miR-381	CLIP-seq
MIRT1142392	hsa-miR-3925-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142393	hsa-miR-4252	CLIP-seq
MIRT1142394	hsa-miR-4284	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142367	hsa-miR-4487	CLIP-seq
MIRT1142396	hsa-miR-4635	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142401	hsa-miR-4767	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142404	hsa-miR-548aa	CLIP-seq
MIRT1142405	hsa-miR-548c-3p	CLIP-seq
MIRT1142379	hsa-miR-558	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142407	hsa-miR-566	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142409	hsa-miR-645	CLIP-seq
MIRT1142410	hsa-miR-663	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT2040430	hsa-miR-1323	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142384	hsa-miR-1908	CLIP-seq
MIRT1142385	hsa-miR-216b	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT2040431	hsa-miR-335	CLIP-seq
MIRT1142388	hsa-miR-3613-3p	CLIP-seq
MIRT1142389	hsa-miR-3650	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT2040433	hsa-miR-371-5p	CLIP-seq
MIRT2040434	hsa-miR-371b-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT2040435	hsa-miR-4504	CLIP-seq
MIRT1142396	hsa-miR-4635	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT2040437	hsa-miR-4737	CLIP-seq
MIRT1142401	hsa-miR-4767	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT1142404	hsa-miR-548aa	CLIP-seq
MIRT1142405	hsa-miR-548c-3p	CLIP-seq
MIRT2040438	hsa-miR-548o	CLIP-seq
MIRT2040439	hsa-miR-548p	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142407	hsa-miR-566	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142409	hsa-miR-645	CLIP-seq
MIRT2040440	hsa-miR-658	CLIP-seq
MIRT1142410	hsa-miR-663	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142381	hsa-miR-1227	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT1142383	hsa-miR-128	CLIP-seq
MIRT2270196	hsa-miR-1295	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT2270197	hsa-miR-186	CLIP-seq
MIRT1142384	hsa-miR-1908	CLIP-seq
MIRT1142386	hsa-miR-24	CLIP-seq
MIRT1142349	hsa-miR-3160-3p	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT1142388	hsa-miR-3613-3p	CLIP-seq
MIRT2270198	hsa-miR-362-5p	CLIP-seq
MIRT1142389	hsa-miR-3650	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT2040433	hsa-miR-371-5p	CLIP-seq
MIRT2040434	hsa-miR-371b-5p	CLIP-seq
MIRT1142392	hsa-miR-3925-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142393	hsa-miR-4252	CLIP-seq
MIRT1142394	hsa-miR-4284	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142367	hsa-miR-4487	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT2040437	hsa-miR-4737	CLIP-seq
MIRT1142401	hsa-miR-4767	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142373	hsa-miR-4786-5p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142375	hsa-miR-4794	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT2270199	hsa-miR-500b	CLIP-seq
MIRT2270200	hsa-miR-501-5p	CLIP-seq
MIRT2270201	hsa-miR-508-5p	CLIP-seq
MIRT1142405	hsa-miR-548c-3p	CLIP-seq
MIRT1142379	hsa-miR-558	CLIP-seq
MIRT1142407	hsa-miR-566	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142409	hsa-miR-645	CLIP-seq
MIRT2040440	hsa-miR-658	CLIP-seq
MIRT1142410	hsa-miR-663	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142347	hsa-miR-3122	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142359	hsa-miR-3913-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142361	hsa-miR-4325	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT1142383	hsa-miR-128	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142386	hsa-miR-24	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142394	hsa-miR-4284	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142381	hsa-miR-1227	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT2569333	hsa-miR-133a	CLIP-seq
MIRT2569334	hsa-miR-133b	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142384	hsa-miR-1908	CLIP-seq
MIRT1142349	hsa-miR-3160-3p	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT1142389	hsa-miR-3650	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT1142392	hsa-miR-3925-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142393	hsa-miR-4252	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142367	hsa-miR-4487	CLIP-seq
MIRT2569335	hsa-miR-451b	CLIP-seq
MIRT2569336	hsa-miR-4640-5p	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT2569337	hsa-miR-4726-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142401	hsa-miR-4767	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT2270201	hsa-miR-508-5p	CLIP-seq
MIRT1142379	hsa-miR-558	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142407	hsa-miR-566	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142409	hsa-miR-645	CLIP-seq
MIRT2569338	hsa-miR-661	CLIP-seq
MIRT1142410	hsa-miR-663	CLIP-seq
MIRT2569339	hsa-miR-766	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq
MIRT1142381	hsa-miR-1227	CLIP-seq
MIRT1142382	hsa-miR-1251	CLIP-seq
MIRT1142383	hsa-miR-128	CLIP-seq
MIRT2569333	hsa-miR-133a	CLIP-seq
MIRT2569334	hsa-miR-133b	CLIP-seq
MIRT1142346	hsa-miR-1827	CLIP-seq
MIRT1142384	hsa-miR-1908	CLIP-seq
MIRT1142386	hsa-miR-24	CLIP-seq
MIRT1142349	hsa-miR-3160-3p	CLIP-seq
MIRT1142351	hsa-miR-3192	CLIP-seq
MIRT1142389	hsa-miR-3650	CLIP-seq
MIRT2040432	hsa-miR-3664-3p	CLIP-seq
MIRT1142390	hsa-miR-3682-5p	CLIP-seq
MIRT1142356	hsa-miR-3689a-3p	CLIP-seq
MIRT1142357	hsa-miR-3689c	CLIP-seq
MIRT1142358	hsa-miR-3689d	CLIP-seq
MIRT1142392	hsa-miR-3925-5p	CLIP-seq
MIRT1142360	hsa-miR-3929	CLIP-seq
MIRT1142393	hsa-miR-4252	CLIP-seq
MIRT1142394	hsa-miR-4284	CLIP-seq
MIRT1142395	hsa-miR-4327	CLIP-seq
MIRT1142362	hsa-miR-4419b	CLIP-seq
MIRT1142364	hsa-miR-4433	CLIP-seq
MIRT1142365	hsa-miR-4459	CLIP-seq
MIRT1142366	hsa-miR-4478	CLIP-seq
MIRT1142367	hsa-miR-4487	CLIP-seq
MIRT2569335	hsa-miR-451b	CLIP-seq
MIRT2569336	hsa-miR-4640-5p	CLIP-seq
MIRT1142368	hsa-miR-4649-3p	CLIP-seq
MIRT1142397	hsa-miR-4684-5p	CLIP-seq
MIRT2040436	hsa-miR-4695-5p	CLIP-seq
MIRT1142398	hsa-miR-4719	CLIP-seq
MIRT1142370	hsa-miR-4722-5p	CLIP-seq
MIRT2569337	hsa-miR-4726-5p	CLIP-seq
MIRT1142371	hsa-miR-4728-5p	CLIP-seq
MIRT1142399	hsa-miR-4731-3p	CLIP-seq
MIRT1142400	hsa-miR-4733-5p	CLIP-seq
MIRT1142401	hsa-miR-4767	CLIP-seq
MIRT1142372	hsa-miR-4768-3p	CLIP-seq
MIRT1142402	hsa-miR-4768-5p	CLIP-seq
MIRT1142374	hsa-miR-4793-3p	CLIP-seq
MIRT1142403	hsa-miR-4801	CLIP-seq
MIRT1142376	hsa-miR-485-5p	CLIP-seq
MIRT1142377	hsa-miR-490-3p	CLIP-seq
MIRT2270201	hsa-miR-508-5p	CLIP-seq
MIRT1142379	hsa-miR-558	CLIP-seq
MIRT1142406	hsa-miR-564	CLIP-seq
MIRT1142407	hsa-miR-566	CLIP-seq
MIRT1142408	hsa-miR-622	CLIP-seq
MIRT1142409	hsa-miR-645	CLIP-seq
MIRT2569338	hsa-miR-661	CLIP-seq
MIRT1142410	hsa-miR-663	CLIP-seq
MIRT2569339	hsa-miR-766	CLIP-seq
MIRT2040441	hsa-miR-767-3p	CLIP-seq
MIRT1142380	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	20805247

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0002221	Process	Pattern recognition receptor signaling pathway	NAS	29196474
GO:0002376	Process	Immune system process	IEA
GO:0003779	Function	Actin binding	IDA	11468188
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11498534, 16785446, 17964261, 25006247, 25127057, 26347139, 27030597
GO:0005634	Component	Nucleus	IDA	11115844
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	26347139
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005874	Component	Microtubule	NAS	27911804
GO:0005875	Component	Microtubule associated complex	IDA	11468188
GO:0005886	Component	Plasma membrane	IDA
GO:0006954	Process	Inflammatory response	IDA	11468188
GO:0006954	Process	Inflammatory response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11115844
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010508	Process	Positive regulation of autophagy	IDA	26347139
GO:0030027	Component	Lamellipodium	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032651	Process	Regulation of interleukin-1 beta production	IMP	27030597
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IMP	20041150
GO:0032695	Process	Negative regulation of interleukin-12 production	IMP	20041150
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	16037825
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0034341	Process	Response to type II interferon	IDA	26347139
GO:0042802	Function	Identical protein binding	IPI	17964261, 22829933, 25006247
GO:0042995	Component	Cell projection	IEA
GO:0045087	Process	Innate immune response	IBA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	16403826
GO:0050729	Process	Positive regulation of inflammatory response	ISO
GO:0051707	Process	Response to other organism	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061702	Component	Canonical inflammasome complex	IPI	16037825
GO:0070269	Process	Pyroptotic inflammatory response	NAS	29196474
GO:0071641	Process	Negative regulation of macrophage inflammatory protein 1 alpha production	IMP	20041150
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IMP	26347139
GO:1900226	Process	Negative regulation of NLRP3 inflammasome complex assembly	IMP	26347139
GO:1904270	Process	Pyroptosome complex assembly	IDA	27030597

Other IDs

• MIM: 608107
• HGNC: 6998
• e!Ensembl: ENSG00000103313

Protein

• UniProt ID: O15553
• Protein name: Pyrin (Marenostrin)
• Protein function: Involved in the regulation of innate immunity and the inflammatory response in response to IFNG/IFN-gamma (PubMed:10807793, PubMed:11468188, PubMed:16037825, PubMed:16785446, PubMed:17431422, PubMed:17964261, PubMed:18577712, PubMed:19109554, Pu
• PDB: 2MPC, 2WL1, 4CG4, 8C28, 8C2Y, 8C30, 8SDJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02758	PYRIN	8 → 84	PAAD/DAPIN/Pyrin domain	Domain
  PF00643	zf-B_box	370 → 412	B-box zinc finger	Domain
  PF13765	PRY	600 → 648	SPRY-associated domain	Family
  PF00622	SPRY	652 → 771	SPRY domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tiss
• Sequence:

  MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTY
  YGEEYAVQLTLQVLRAINQRLLAEELHRAAIQEYSTQENGTDDSAASSSLGENKPRSLKT
  PDHPEGNEGNGPRPYGGGAASLRCSQPEAGRGLSRKPLSKRREKASEGLDAQGKPRTRSP
  ALPGGRSPGPCRALEGGQAEVRLRRNASSAGRLQGLAGGAPGQKECRPFEVYLPSGKMRP
  RSLEVTISTGEKAPANPEILLTLEEKTAANLDSATEPRARPTPDGGASADLKEGPGNPEH
  SVTGRPPDTAASPRCHAQEGDPVDGTCVRDSCSFPEAVSGHPQASGSRSPGCPRCQDSHE
  RKSPGSLSPQPLPQCKRHLKQVQLLFCEDHDEPICLICSLSQEHQGHRVRPIEEVALEHK
  KKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQRVQRKLEQVYYFLEQQEHFF
  VASLEDVGQMVGQIRKAYDTRVSQDIALLDALIGELEAKECQSEWELLQDIGDILHRAKT
  VPVPEKWTTPQEIKQKIQLLHQKSEFVEKSTKYFSETLRSEMEMFNVPELIGAQAHAVNV
  ILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVG
  DKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGI
  FVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGP
  D

• Sequence length: 781

Pathways

KEGG:

NOD-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Yersinia infection

Reactome:

The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection

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
Acute febrile neutrophilic dermatosis	Likely pathogenic; Pathogenic	rs104895127, rs1179528365, rs886082025, rs61752717, rs28940578, rs28940579, rs104895097, rs28940580, rs104895085, rs1959081392	RCV005016370 RCV001535879 RCV001535884 RCV001197704 RCV005016225 RCV001535867 RCV001536101 RCV005016229 RCV005016230 RCV001197705 RCV001174525	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs104895093, rs768066753, rs61752717, rs28940578, rs28940579, rs104895097, rs28940580	RCV002262640 RCV002262054 RCV002262539 RCV002262540 RCV002262541 RCV002262548 RCV002262549 RCV002262586	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Behcet disease	Pathogenic	rs751454741	RCV000495851	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Mediterranean fever	Likely pathogenic; Pathogenic	rs104895093, rs104895127, rs1179528365, rs886082025, rs751375381, rs61752717, rs28940578, rs28940579, rs104895097, rs28940580, rs104895085, rs1048716809, rs1959114278, rs1959115414	RCV000083737 RCV000083792 RCV001535879 RCV001535884 RCV002222938 RCV000002647 RCV000002648 RCV000002649 RCV000002658 RCV000002659 RCV000002662 RCV003605614 RCV004576149 RCV000030179 RCV001240947 RCV001247730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Mediterranean fever, autosomal dominant	Likely pathogenic; Pathogenic	rs104895093, rs104895127, rs1179528365, rs886082025, rs61752717, rs28940578, rs28940579, rs104895097, rs28940580, rs104895085	RCV003460764 RCV001804836 RCV001535879 RCV001535884 RCV000763381 RCV000589706 RCV000515437 RCV000763379 RCV001283820 RCV003466788 RCV002477026	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MEFV-related disorder	Likely pathogenic; Pathogenic	rs61752717, rs28940578, rs28940579, rs104895097, rs28940580	RCV003335011 RCV004528066 RCV004739280 RCV004739282 RCV004724727 RCV004739312	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs104895127	RCV004542801	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent fever	Likely pathogenic; Pathogenic	rs61752717	RCV003325449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cardiovascular system morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, PSORIATIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central core myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart, malformation of	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HENOCH-SCHOENLEIN PURPURA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia, familial, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperpigmentation of the skin	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMITTENT HYDRARTHROSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin vesicle	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWEET SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic lupus erythematosus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Von Hippel-Lindau syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	10024914, 10787449, 11588211, 12105243, 14679589, 15071491, 17187267, 24593212, 25376380, 25586652, 27150194, 27225717, 27838405, 30085313, 30476289, 31384939		★☆☆☆☆ Found in Text Mining only
Acne	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	12771947		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20518828		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	17696266, 30425719		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	20518828		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26760997, 28004443		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	17090974		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	BEFREE	11017802, 11544000, 12401847, 12563686, 16118480, 16874691, 17469185, 19888326, 23038988		★☆☆☆☆ Found in Text Mining only
Amyloid nephropathy	Amyloid Nephropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10234504, 10667038, 10799634, 10905662, 11029479, 11139244, 11156548, 11544000, 12401847, 12563686, 12687559, 12762136, 14636645, 15018633, 15071491, 15122067, 16874691, 17005326, 17102945, 17187267, 17469185, 18061974, 19033264, 19210876, 19797919, 20044784, 25394530, 25669438, 27791951, 28590056, 29634349, 9851884		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	11156548, 12687559, 12929299, 15018633, 15458961, 19797919, 22318840, 22705602, 25394530, 28781304, 28859624, 31603074, 34692839	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	LHGDN	12105243, 12401847, 17102945, 17469185, 18061974, 18266121		★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	10364520, 11017802, 12687559, 17469185, 19888326, 23038988, 23907647, 28859624	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18597091, 19119044, 20533539, 20669279, 22960328, 23356447, 25036284, 28800602, 28982344, 30299251, 30557972, 30946743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	30946743		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	22953644		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16803997, 25188917, 27384322, 29122594, 29466287, 29880500, 30254716, 30354239, 30371306, 30591286, 31100709, 31600880		★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	15458961, 18300119, 26759267, 27026266, 27030597, 31804137, 35812376	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	10364520, 15458961, 18300119, 23206577, 23907647, 26759267, 29642170, 30299251, 31171010, 32778116, 34098104	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	14727057, 18843775, 19837680, 23360841, 26457478, 27053370, 27267332, 27310037, 30458853, 31443670		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	18576390, 23907647, 30847869, 30940621, 32398039, 32894151	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	35480407	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	15498798, 15958759, 20533539, 22736089, 25730039, 33162488, 35480407	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	BEFREE	24533551, 27587294		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17408446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Psoriatic	Psoriatic Arthritis	CTD_human_DG	17408446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthritis, Suppurative	Suppurative arthritis	BEFREE	16724804		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18219832, 7856643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	12908875	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16803997, 25188917, 27384322, 29122594, 29466287, 29880500, 30254716, 30354239, 30371306, 30591286, 31100709, 31600880		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	23269568		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	23269568		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23269568		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15958759, 16218464, 30647128, 30915320		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26794091, 33162488	Associate	★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	16037825, 17431422, 18330885, 18725973, 19863562, 19888326, 22244368, 23206693, 23508419, 23844200, 24564907, 25438464, 26025129, 26332735, 27059542, 27682255, 27998728, 30457980		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	9288094		★☆☆☆☆ Found in Text Mining only
	Behcet Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	10980540, 11313758, 11908568, 14727457, 15903027, 16273767, 16951489, 17005326, 17454935, 18609258, 20051862, 21385537, 21623663, 21901355, 23633568, 23663176, 23973724, 26176758, 26347074, 30808881, 31598713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	LHGDN	15903027, 17454935, 18609258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	16951489, 23633568, 25318808, 29490685, 30808881, 31682063	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	ORPHANET_DG	23633568		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	30872037		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	29659435		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33253105	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28069875		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31689135		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24433404	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30254716, 30571177		★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	32303241	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31482943		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18351429		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	20517179	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	31139696		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	34160354	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Neurological, Cutaneous And Articular Syndrome	BEFREE	12371636, 12483741, 14752334		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28628921, 29371912, 31276670		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28252317		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	28590056		★☆☆☆☆ Found in Text Mining only
Cirrhosis Cryptogenic	Cirrhosis	Pubtator	18004180	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	18004180		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34001682	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	LHGDN	16614989		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26848183, 29203393		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	34160354	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19784369, 33819232, 34160354, 36165492	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29203393		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	24702757, 30939905		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17005326, 24702757, 30939905		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16387839, 17005326, 24702757, 30939905		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15667491, 15674370, 19784369, 20049453, 21385537, 22244368, 22810105, 31084224		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19784369, 33819232, 34160354, 35190924	Associate	★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	15059033, 18984609, 19364881, 19877056, 20179416, 21148158, 26161132, 27856657, 31194989		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31454256		★☆☆☆☆ Found in Text Mining only
deficiency of adenosine deaminase 2	Adenosine deaminase 2 deficiency	Pubtator	30418125	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	15059033, 16466630, 27856657, 29846819		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15498798, 24009456, 31407595		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	27951472		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	20517179	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28213267, 28460353		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28733143		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30307163, 31146750		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30307163, 31146750		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25449140, 26305961		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23086037, 26095630, 29466287, 30939905, 31038962, 31200447		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30086405, 30098377, 30571313		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28465656		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11468188, 15868622, 16785446, 20485448, 22878273, 24424166, 25760918, 28386255, 4015155, 5340644, 9288758, 9668175		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	BEFREE	31494649		★☆☆☆☆ Found in Text Mining only
Enthesitis	Enthesitis	BEFREE	23812619, 27053370		★☆☆☆☆ Found in Text Mining only
Erysipelas	Erysipelas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	21978701, 31804137	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	22905681		★☆☆☆☆ Found in Text Mining only
Familial cold urticaria	Cold urticaria	BEFREE	12371636, 14752334		★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	10364520, 10666224, 10807793, 11017802, 11156548, 12687559, 12908875, 12929299, 13130485, 14595024, 14722209, 15018633, 15458961, 15958759, 16304362, 16364311, 16439335, 16447225, 16702743, 16785446, 16951489, 17195238, 17329916, 17400754, 17469185, 17665427, 17675778, 17954950, 18004180, 18300119, 18496034, 18577712, 19033264, 19153241, 19784369, 19820675, 20074469, 20391345, 20506103, 20517179, 20533539, 20534143, 20669279, 20962446, 21978701, 22318840, 22705602, 22892512, 22960328, 23038988, 23111802, 23206577, 23356447, 23400211, 23479736, 23508419, 23633568, 23907647, 24009456, 24141617, 24433404, 24797171, 24835548, 25073670, 25261100, 25286988, 25887307, 26027984, 26076658, 26123310, 26161132, 26428868, 26466703, 26574972, 26759267, 27030597, 27059542, 27170062, 27267332, 27467001, 28260482, 28781304, 28835462, 28859624, 28971640, 29173686, 29490685, 29505533, 29526930, 29543225, 29624229, 29642170, 29780113, 30568124, 30714637, 30847869, 30946743, 30996171, 31097862, 31264586, 31308342, 31376265, 31443670, 31511485, 31533789, 31603074, 31627741, 31682063, 31804137, 31916727, 32312770, 32398039, 32477360, 33162488, 33253105, 33315354, 33436947, 33726481, 33738724, 33819232, 34001682, 34011672, 34078428, 34160354, 34251301, 34251310, 34690203, 34692839, 35621992, 35812376, 35831068, 36198677, 36223753, 36450463, 36624531, 37140617, 37747561, 38204312, 39440870, 39684669	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	25261084	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatty Liver Disease	Fatty Liver	BEFREE	31593687		★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	24668705		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	27502441, 31570558		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	29505533	Associate	★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	23009175, 31916727	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23217424, 28069875		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23217424, 28069875		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23217424		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	12908875, 15458961	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	18177471, 28573371		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	31266025		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	31097862	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	31682063	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24433404	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	24433404	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	22453916		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	14615741, 18843775, 20051862, 20602240, 21231959, 22451026, 23325094, 23981758, 27796522, 30513227, 30826945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	25626331	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	14679589, 15071491, 21148158, 21776013, 25393764, 29203393		★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	21600797		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	30488432		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	20518828		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	21623199		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	21623199, 25082979		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	25626331	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26095630		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31266025		★☆☆☆☆ Found in Text Mining only
Hyperimmunoglobulinemia D	Hyperimmunoglobulinemia	BEFREE	11014353, 27270401, 29916847		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32000163	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28975396		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	29740155, 30824640		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28646872		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36474231	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	18177471		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17520284, 19309279, 20306331, 22810105, 23164758, 25292286, 29203393, 30559669, 30937839, 31494649		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19784369, 33819232, 34643647, 35190924	Associate	★☆☆☆☆ Found in Text Mining only
Intermittent hydrarthrosis	Intermittent Hydrarthrosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intermittent joint effusion	Intermittent Joint Effusion	ORPHANET_DG	16802374		★☆☆☆☆ Found in Text Mining only
Intermittent joint effusion	Intermittent Joint Effusion	BEFREE	17665427		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	BEFREE	30513227		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15071491, 18576390, 23588594, 25220867, 26457478		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	29600428		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	BEFREE	17408446		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	26509767		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27819323, 29929501, 31164720		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11156548, 15458961, 25394530	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	25394530		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36781600	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	26076658	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12620289, 20437121, 22351163		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	26076658, 29600428		★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15289321, 28011505, 29845207		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31533789	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25626331	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26418144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24835548, 37286266	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	21385555, 22532615, 24261764, 25413357, 30403914, 31432226		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	25413357, 31432226		★☆☆☆☆ Found in Text Mining only
Lymphadenitis	Lymphadenitis	BEFREE	29031862, 30361059		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20814243		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	30544414		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28069875		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10666224		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12438253, 17584123, 20437121, 20814243, 22351163, 24465623, 28733143, 31085244		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35621992	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28213267, 28460353		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31200447		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27467001	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27467001		★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	16304362, 29624229, 31443670	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	30996171	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth Diseases	BEFREE	30315987		★☆☆☆☆ Found in Text Mining only
Muckle-Wells Syndrome	Muckle-Wells Syndrome	BEFREE	11014353, 15071491, 28229991		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	19026701, 31627741		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	31627741	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10223569, 20518828		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12700594, 20483145, 20876156, 21299735, 22337722, 22406096, 23297013, 23325590, 24712487, 28927886, 28965161, 31200447		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	32563262	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	12700594		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	27026266		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27026266	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	27026266	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19466506, 22351163		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18824843, 20437121		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	16387839		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	27026266	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31645662		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28912259		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	24965843, 27030597	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	BEFREE	19851467, 21957307		★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	LHGDN	17710881		★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	21329961		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12438253, 20388524, 20437121, 20518828, 22453916, 29600428, 29706956		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrosclerosis	Nephrosclerosis	Pubtator	26466703	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	12908875	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	CLINVAR_DG	15942916		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29239128, 30258045		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31675164		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	26076658	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27730320, 27862176, 30295793		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	30135214		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28245087		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31200447		★☆☆☆☆ Found in Text Mining only
Opitz GBBB Syndrome, X-Linked	Opitz GBBB Syndrome, X-Linked	BEFREE	16369487		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24009456	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	30676848		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29262843, 30112966, 31200447		★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	24433404, 26759267	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	16218464		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	Pubtator	26759267, 34098104, 35658515	Associate	★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericarditis, Constrictive	Pericarditis	BEFREE	21210266		★☆☆☆☆ Found in Text Mining only
Periodic syndrome	Periodic Syndrome	BEFREE	14679589		★☆☆☆☆ Found in Text Mining only
Periodic syndrome	Periodic Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	26400644, 30945296		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	23111802	Associate	★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	21148158		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	30142638		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	BEFREE	22580583		★☆☆☆☆ Found in Text Mining only
Pleurisy	Pleuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	18035151, 30642227		★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	27098789		★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	28971640		★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	27538774		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	25160604		★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10666224	Associate	★☆☆☆☆ Found in Text Mining only
Protein-Losing Enteropathies	Protein-losing enteropathy	BEFREE	21210266		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	26759267	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	29659435		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30996171	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28814068		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	16724804, 27943240		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	35831068	Associate	★☆☆☆☆ Found in Text Mining only
Pyogenic arthritis pyoderma gangrenosum and acne	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pubtator	14595024	Associate	★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	14595024, 15324736, 17964261, 18347298, 26025129, 31443670		★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	10024914, 10787449, 11349841, 11588211, 12105243, 14679589, 15071491, 17187267, 25376380, 25586652, 27150194, 27225717, 27838405, 30085313, 30476289, 31384939		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	23663176		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	23471649		★☆☆☆☆ Found in Text Mining only
Retrobulbar Neuritis	Retrobulbar Neuritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	17665427	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	20645115		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15071491, 15498798, 15958759, 17067442, 20031469, 20533539, 23360841, 23687262, 24661635, 25730039, 26095630, 30213700, 30277570, 31750519		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	BEFREE	18795391, 31813060		★☆☆☆☆ Found in Text Mining only
Sacroiliitis	Sacroiliitis	Pubtator	23356447	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	27053370		★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	24668705	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	17696266, 28245134, 29192367, 31766320		★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	27170062	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	30996171	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25073670	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida, Open	Spina Bifida	BEFREE	31438742		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	23907647	Associate	★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	23356447, 29579081, 31750519		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	20533539, 20669279, 22960328, 23356447, 25536725, 30557972	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24465623		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29273596		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	18824843, 31682063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sweet Syndrome	Sweet syndrome	Pubtator	27030597, 31204589, 31682063	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sweet syndrome	Sweet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Synophrys	Synophrys	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	31171010, 32778116	Associate	★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	BEFREE	18984609, 20044784, 24862656		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25739168		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	26598518		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16614989, 19784369, 20224922, 22810105, 31494649		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35909123	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	20179416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicocele	Varicocele	BEFREE	29456821		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	15458961, 23907647, 34690203	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	16721494, 23981758, 28516235, 31598713		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	LHGDN	16721494		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	26428868		★☆☆☆☆ Found in Text Mining only
Yao syndrome	Yao Syndrome	BEFREE	31084224		★☆☆☆☆ Found in Text Mining only