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
• Disease Acronyms (UniProt): PAAND
• 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:0003779	Function	Actin binding	IDA	11468188
GO:0005515	Function	Protein binding	IPI	11498534, 16785446, 17964261, 25006247, 25127057, 26347139
GO:0005634	Component	Nucleus	IDA	11115844
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	26347139
GO:0005776	Component	Autophagosome	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IDA	11468188
GO:0006954	Process	Inflammatory response	IDA	11468188
GO:0008270	Function	Zinc ion binding	NAS	11115844
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0010508	Process	Positive regulation of autophagy	IDA	26347139
GO:0016567	Process	Protein ubiquitination	IBA	21873635
GO:0030027	Component	Lamellipodium	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032691	Process	Negative regulation of interleukin-1 beta production	IMP	20041150
GO:0032695	Process	Negative regulation of interleukin-12 production	IMP	20041150
GO:0034341	Process	Response to interferon-gamma	IDA	26347139
GO:0042802	Function	Identical protein binding	IPI	17964261, 22829933, 25006247
GO:0045087	Process	Innate immune response	IBA	21873635
GO:0050728	Process	Negative regulation of inflammatory response	IMP	16403826
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
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:2001056	Process	Positive regulation of cysteine-type endopeptidase activity	IDA	19158676

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

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Arthritis, Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Autoinflammatory disease	Autoinflammatory disorder, Hereditary Autoinflammatory Diseases	rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924	9288094, 21600797
Behcet syndrome	Behcet Syndrome, Behçet disease	rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741	23633568
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Migraine	Migraine Disorders	rs794727411
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	15942916
Renal insufficiency	Renal Insufficiency	rs1596536873
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction			ClinVar
Pancreatitis	Pancreatitis			ClinVar
Ankylosing Spondylitis	Ankylosing Spondylitis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	17469185, 23461592, 37738242
Abdomen Acute	Associate	19820675
Abdominal Injuries	Associate	35812376
Abdominal Pain	Associate	15458961, 21978701, 25073670, 25626331, 26759267, 31627741, 31804137, 34098104
Acute Disease	Inhibit	17195238
Amyloidosis	Associate	11156548, 12687559, 12929299, 15018633, 15458961, 19797919, 22318840, 22705602, 25394530, 28781304, 28859624, 31603074, 34692839
Amyloidosis familial visceral	Associate	10364520, 11017802, 12687559, 17469185, 19888326, 23038988, 23907647, 28859624
Arthralgia	Associate	15458961, 18300119, 26759267, 27026266, 27030597, 31804137, 35812376
Arthritis	Associate	10364520, 15458961, 18300119, 23206577, 23907647, 26759267, 29642170, 30299251, 31171010, 32778116, 34098104
Arthritis Juvenile	Associate	18576390, 23907647, 30847869, 30940621, 32398039, 32894151
Arthritis Psoriatic	Associate	35480407
Arthritis Rheumatoid	Associate	15498798, 15958759, 20533539, 22736089, 25730039, 33162488, 35480407
Arthropathy progressive pseudorheumatoid of childhood	Associate	32894151
Astrocytoma	Associate	12908875
Autoimmune Diseases	Associate	26794091, 33162488
Behcet Syndrome	Associate	16951489, 23633568, 25318808, 29490685, 30808881, 31682063
Bone Diseases	Associate	33253105
Cardiovascular Diseases	Associate	24433404
Castleman Disease	Associate	32303241
CD59 Deficiency	Associate	34098104
Cerebrovascular Disorders	Associate	20517179
Chemical and Drug Induced Liver Injury	Associate	25626331, 36198677
Chest Pain	Associate	15458961, 26759267, 31804137, 38204312
Chronic Disease	Associate	34160354
Cirrhosis Cryptogenic	Associate	18004180
Cognition Disorders	Associate	34001682
Cold Injury	Associate	28781304
Colitis	Associate	34160354
Colitis Ulcerative	Associate	19784369, 33819232, 34160354, 36165492
Coronavirus Infections	Associate	36688196
COVID 19	Associate	36450463, 36688196
Crohn Disease	Associate	19784369, 33819232, 34160354, 35190924
Cryopyrin Associated Periodic Syndromes	Associate	19877056, 26161132, 30568124, 37747561
deficiency of adenosine deaminase 2	Associate	30418125
Demyelinating Diseases	Associate	20517179
Drug Eruptions	Associate	25073670
Erysipelas	Associate	23907647, 25887307, 31804137
Erythema	Associate	23907647, 31804137
Exanthema	Associate	21978701, 31804137
Familial Mediterranean Fever	Associate	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
Familial Mediterranean Fever	Stimulate	25261084
Fasciitis	Associate	25500445
Fever	Associate	15458961, 21978701, 25073670, 25626331, 26123310, 26161132, 26759267, 28260482, 28781304, 29927949, 31627741, 31916727, 34096620, 34098104, 36223753
Fibromyalgia	Associate	29927949
Gastrointestinal Diseases	Associate	29505533
Genetic Diseases Inborn	Associate	25887307
Gitelman Syndrome	Associate	23009175, 31916727
Glomerulonephritis	Associate	12908875, 15458961
Gout	Associate	31097862
Headache	Associate	31682063
Hearing Loss High Frequency	Associate	26025129
Heart Diseases	Associate	24433404
Heart Valve Diseases	Associate	24433404
Hepatitis Alcoholic	Associate	25626331
Hereditary Autoinflammatory Diseases	Associate	12483741, 18512793, 18576390, 21978701, 23461592, 23479736, 23508419, 25866490, 26076658, 27030597, 30808881, 31204589, 31286971, 31376265, 32312770, 32563262, 33436947, 34096620, 34511567, 34690203, 36223753, 37928541
Heredodegenerative Disorders Nervous System	Associate	27026266
Hip Injuries	Associate	31171010
HIV Infections	Associate	27321752
Hydrarthrosis	Associate	17665427
Hyperbilirubinemia	Associate	25626331
Hyperplasia	Associate	32000163
Hypokalemia	Associate	31916727
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	37286266
Idiopathic Pulmonary Fibrosis	Associate	36474231
IgA Vasculitis	Associate	25232290, 26759267, 27513391
Inflammation	Associate	10807793, 12908875, 14595024, 15456791, 15958759, 16304362, 16951489, 17195238, 17665427, 17954950, 18300119, 24433404, 24465623, 25394530, 25730039, 26076658, 26161132, 26428868, 26574972, 27467001, 28835462, 28971640, 29672590, 29927949, 31627741, 32563262, 32597225, 34001682, 35190924, 36624531, 37738242
Inflammation	Inhibit	12929299
Inflammation	Stimulate	34692839
Inflammatory Bowel Diseases	Associate	19784369, 33819232, 34643647, 35190924
Influenza Human	Associate	24641803
Intussusception	Associate	34643647
Joint Diseases	Associate	31171010
Kidney Failure Chronic	Associate	11156548, 15458961, 25394530
Leukemia Myeloid Acute	Associate	36781600
Leukemia Myelomonocytic Chronic	Associate	26076658
Leukoencephalopathies	Associate	31682063
Liver Diseases	Associate	31533789
Liver Failure	Associate	25626331
Lupus Erythematosus Systemic	Associate	24835548, 37286266
Lymphadenitis	Associate	34511567
Macrophage Activation Syndrome	Associate	30544414
Melanoma	Associate	35621992
Mesenteric Lymphadenitis	Associate	34643647
Metabolic Syndrome	Associate	27467001
Mevalonate Kinase Deficiency	Associate	16304362, 29624229, 31443670
Mixed Connective Tissue Disease	Associate	30996171
Mucocutaneous Lymph Node Syndrome	Associate	31627741
Multi centric Castleman's Disease	Associate	32303241, 34096620
Multiple Sclerosis	Associate	32563262
Muscular dystrophy congenital with central nervous system involvement	Associate	20517179
Myalgia	Associate	15458961, 27030597, 28781304
Myasthenia Gravis	Associate	27026266
Myasthenic Syndromes Congenital	Associate	27026266
Myocardial Infarction	Associate	27026266
Myositis	Associate	24965843, 27030597
Neoplasms	Associate	29780113, 36781600
Nephrosclerosis	Associate	26466703
Nephrotic Syndrome	Associate	12908875
Neural Tube Defects	Associate	26076658
Neurologic Manifestations	Associate	32563262
Opitz GBBB Syndrome X Linked	Associate	19153241
Osteoarthritis	Associate	24009456
Pain	Associate	21978701, 24797171, 29780113, 31682063
Paine syndrome	Associate	25500445, 35012585
Palindromic rheumatism	Associate	17665427, 31171010, 34098104
Pericardial Effusion	Associate	24433404, 26759267
Pericarditis	Associate	26759267, 34098104, 35658515
Periodic fever familial autosomal dominant	Associate	13130485, 24835548, 31443670, 37747561
Peritonitis	Associate	23111802
Pharyngitis	Associate	31627741
Plaque Amyloid	Associate	23461592
Pleurisy	Associate	23111802
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	35831068
Polyuria	Associate	31916727
Positive Pressure Respiration Intrinsic	Associate	31097862
Posterior Leukoencephalopathy Syndrome	Associate	20517179
Postpericardiotomy Syndrome	Associate	28971640
Prostatic Neoplasms	Associate	10666224
Prostatitis	Associate	33253105
Proteinuria	Associate	26759267
Pulmonary Arterial Hypertension	Associate	30996171
Pyoderma Gangrenosum	Associate	35831068
Pyogenic arthritis pyoderma gangrenosum and acne	Associate	14595024
Retinal Vein Occlusion	Associate	23400211
Rheumatic Diseases	Associate	25286988, 32778116
Rheumatic Fever	Associate	17665427
Sacroiliitis	Associate	23356447
Seizures Febrile	Associate	24668705
Serositis	Associate	30458853
Sitosterolemia	Associate	27170062
Sjogren's Syndrome	Associate	30996171
Skin Diseases	Associate	25073670
Splenomegaly	Associate	23907647
Spondylitis Ankylosing	Associate	20533539, 20669279, 22960328, 23356447, 25536725, 30557972
Still's Disease Adult Onset	Associate	25286988, 28899403, 29642170, 30544414, 31204589
Sweet Syndrome	Associate	27030597, 31204589, 31682063
Synovitis	Associate	31171010, 32778116
Syringomyelia	Associate	27026266
Ulcer	Associate	22892512, 33819232
Urinary Bladder Neoplasms	Associate	35909123
Vasculitis	Associate	15458961, 23907647, 34690203
Vesico Ureteral Reflux	Associate	26428868
Vomiting	Associate	15458961