ZMPSTE24 (zinc metallopeptidase STE24)

Gene

• Entrez ID: 10269
• Gene name: Zinc metallopeptidase STE24
• Gene symbol: ZMPSTE24
• Synonyms (NCBI Gene): FACE-1, FACE1, HGPS, PRO1, RSDM1, STE24, Ste24p
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61751009	G>A	Pathogenic	Splice acceptor variant
rs121908093	T>C	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs121908094	C>T	Pathogenic, not-provided	Stop gained, non coding transcript variant, coding sequence variant
rs121908095	C>G,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs137854889	T>-,TT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs150740479	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607181	G>A,T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs281875360	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875361	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875367	->T	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875375	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs281875376	G>A	Pathogenic, not-provided	Non coding transcript variant, coding sequence variant, stop gained
rs750229142	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs786205123	AT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886044057	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1431637197	T>A,G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569668526	TTCTAGATGAATTCTTTCCTGTGTTTTTTTTT>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1569671504	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004942	hsa-miR-98-5p	qRT-PCR	17942906
MIRT022576	hsa-miR-124-3p	Microarray	18668037
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT438256	hsa-miR-141-3p	Luciferase reporter assay	24101728
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT1514647	hsa-miR-141	CLIP-seq
MIRT1514648	hsa-miR-1914	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT1514650	hsa-miR-200a	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT1514659	hsa-miR-3607-5p	CLIP-seq
MIRT1514660	hsa-miR-3611	CLIP-seq
MIRT1514661	hsa-miR-3614-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT1514663	hsa-miR-3617	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT1514665	hsa-miR-3653	CLIP-seq
MIRT1514666	hsa-miR-3658	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT1514669	hsa-miR-3913-3p	CLIP-seq
MIRT1514670	hsa-miR-4268	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT1514673	hsa-miR-4302	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT1514675	hsa-miR-4448	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514679	hsa-miR-4477a	CLIP-seq
MIRT1514680	hsa-miR-4484	CLIP-seq
MIRT1514681	hsa-miR-4496	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514698	hsa-miR-499-3p	CLIP-seq
MIRT1514699	hsa-miR-499a-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514707	hsa-miR-584	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT1514709	hsa-miR-641	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT1514713	hsa-miR-944	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT1514651	hsa-miR-224	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT2375146	hsa-miR-3074-5p	CLIP-seq
MIRT2375147	hsa-miR-3124-3p	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2375150	hsa-miR-3156-3p	CLIP-seq
MIRT2375151	hsa-miR-3174	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT2375153	hsa-miR-3673	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514672	hsa-miR-4276	CLIP-seq
MIRT2375155	hsa-miR-4301	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514677	hsa-miR-4469	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT2375158	hsa-miR-4704-3p	CLIP-seq
MIRT2375159	hsa-miR-4717-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2375161	hsa-miR-4769-3p	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT1514705	hsa-miR-548u	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2375162	hsa-miR-640	CLIP-seq
MIRT1514710	hsa-miR-642a	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq
MIRT2155413	hsa-miR-1208	CLIP-seq
MIRT1514642	hsa-miR-1226	CLIP-seq
MIRT1514643	hsa-miR-124	CLIP-seq
MIRT1514644	hsa-miR-1252	CLIP-seq
MIRT2667649	hsa-miR-1253	CLIP-seq
MIRT2667650	hsa-miR-125a-3p	CLIP-seq
MIRT1514645	hsa-miR-1265	CLIP-seq
MIRT2464023	hsa-miR-1290	CLIP-seq
MIRT1514646	hsa-miR-1297	CLIP-seq
MIRT2667651	hsa-miR-1913	CLIP-seq
MIRT1514649	hsa-miR-197	CLIP-seq
MIRT2667652	hsa-miR-1972	CLIP-seq
MIRT2667653	hsa-miR-217	CLIP-seq
MIRT1514652	hsa-miR-2682	CLIP-seq
MIRT1514653	hsa-miR-26a	CLIP-seq
MIRT1514654	hsa-miR-26b	CLIP-seq
MIRT2667654	hsa-miR-30a	CLIP-seq
MIRT2667655	hsa-miR-30b	CLIP-seq
MIRT2667656	hsa-miR-30c	CLIP-seq
MIRT2667657	hsa-miR-30d	CLIP-seq
MIRT2667658	hsa-miR-30e	CLIP-seq
MIRT1514655	hsa-miR-3138	CLIP-seq
MIRT2667659	hsa-miR-3143	CLIP-seq
MIRT2375148	hsa-miR-3148	CLIP-seq
MIRT2155414	hsa-miR-3149	CLIP-seq
MIRT2375149	hsa-miR-3153	CLIP-seq
MIRT2667660	hsa-miR-3163	CLIP-seq
MIRT1514656	hsa-miR-3171	CLIP-seq
MIRT2667661	hsa-miR-3182	CLIP-seq
MIRT2667662	hsa-miR-3185	CLIP-seq
MIRT1514657	hsa-miR-3187-3p	CLIP-seq
MIRT2667663	hsa-miR-324-3p	CLIP-seq
MIRT1514658	hsa-miR-339-5p	CLIP-seq
MIRT2464024	hsa-miR-3613-3p	CLIP-seq
MIRT1514662	hsa-miR-361-5p	CLIP-seq
MIRT2375152	hsa-miR-3622a-5p	CLIP-seq
MIRT1514664	hsa-miR-3646	CLIP-seq
MIRT2667664	hsa-miR-3662	CLIP-seq
MIRT2667665	hsa-miR-3663-3p	CLIP-seq
MIRT1514667	hsa-miR-3667-5p	CLIP-seq
MIRT2667666	hsa-miR-3676	CLIP-seq
MIRT2155415	hsa-miR-3692	CLIP-seq
MIRT1514668	hsa-miR-3714	CLIP-seq
MIRT2695728	hsa-miR-3920	CLIP-seq
MIRT2375154	hsa-miR-4252	CLIP-seq
MIRT1514671	hsa-miR-4272	CLIP-seq
MIRT2667667	hsa-miR-4282	CLIP-seq
MIRT2667668	hsa-miR-4311	CLIP-seq
MIRT2667669	hsa-miR-433	CLIP-seq
MIRT2667670	hsa-miR-4418	CLIP-seq
MIRT2375156	hsa-miR-4423-3p	CLIP-seq
MIRT2155416	hsa-miR-4436a	CLIP-seq
MIRT1514674	hsa-miR-4446-5p	CLIP-seq
MIRT2464025	hsa-miR-4462	CLIP-seq
MIRT1514676	hsa-miR-4465	CLIP-seq
MIRT1514678	hsa-miR-4476	CLIP-seq
MIRT1514682	hsa-miR-449c	CLIP-seq
MIRT2155417	hsa-miR-450b-3p	CLIP-seq
MIRT2667671	hsa-miR-4511	CLIP-seq
MIRT1514683	hsa-miR-4517	CLIP-seq
MIRT1514684	hsa-miR-4519	CLIP-seq
MIRT2155418	hsa-miR-452	CLIP-seq
MIRT1514685	hsa-miR-4520a-3p	CLIP-seq
MIRT1514686	hsa-miR-4529-5p	CLIP-seq
MIRT1514687	hsa-miR-4533	CLIP-seq
MIRT2667672	hsa-miR-4650-5p	CLIP-seq
MIRT1514688	hsa-miR-4663	CLIP-seq
MIRT2375157	hsa-miR-4668-5p	CLIP-seq
MIRT2155419	hsa-miR-4676-3p	CLIP-seq
MIRT1514689	hsa-miR-4699-3p	CLIP-seq
MIRT2155420	hsa-miR-4713-3p	CLIP-seq
MIRT2375160	hsa-miR-4727-5p	CLIP-seq
MIRT1514690	hsa-miR-4733-3p	CLIP-seq
MIRT1514691	hsa-miR-4755-5p	CLIP-seq
MIRT1514692	hsa-miR-4756-3p	CLIP-seq
MIRT1514693	hsa-miR-4765	CLIP-seq
MIRT2667673	hsa-miR-4775	CLIP-seq
MIRT2155421	hsa-miR-4777-3p	CLIP-seq
MIRT2667674	hsa-miR-4780	CLIP-seq
MIRT2667675	hsa-miR-4793-5p	CLIP-seq
MIRT1514694	hsa-miR-4795-3p	CLIP-seq
MIRT1514695	hsa-miR-4796-3p	CLIP-seq
MIRT2667676	hsa-miR-4803	CLIP-seq
MIRT1514696	hsa-miR-488	CLIP-seq
MIRT2667677	hsa-miR-494	CLIP-seq
MIRT1514697	hsa-miR-498	CLIP-seq
MIRT1514700	hsa-miR-506	CLIP-seq
MIRT2667678	hsa-miR-509-3-5p	CLIP-seq
MIRT2667679	hsa-miR-509-5p	CLIP-seq
MIRT2667680	hsa-miR-520d-5p	CLIP-seq
MIRT2667681	hsa-miR-520g	CLIP-seq
MIRT2667682	hsa-miR-524-5p	CLIP-seq
MIRT2667683	hsa-miR-548a-3p	CLIP-seq
MIRT2667684	hsa-miR-548ac	CLIP-seq
MIRT2667685	hsa-miR-548ae	CLIP-seq
MIRT2667686	hsa-miR-548aj	CLIP-seq
MIRT2667687	hsa-miR-548am	CLIP-seq
MIRT1514701	hsa-miR-548an	CLIP-seq
MIRT2667688	hsa-miR-548c-3p	CLIP-seq
MIRT2667689	hsa-miR-548d-3p	CLIP-seq
MIRT2667690	hsa-miR-548e	CLIP-seq
MIRT2667691	hsa-miR-548f	CLIP-seq
MIRT1514702	hsa-miR-548h	CLIP-seq
MIRT1514703	hsa-miR-548j	CLIP-seq
MIRT2667692	hsa-miR-548n	CLIP-seq
MIRT1514704	hsa-miR-548p	CLIP-seq
MIRT2667693	hsa-miR-548x	CLIP-seq
MIRT2667694	hsa-miR-548z	CLIP-seq
MIRT2667695	hsa-miR-570	CLIP-seq
MIRT1514706	hsa-miR-577	CLIP-seq
MIRT2667696	hsa-miR-590-3p	CLIP-seq
MIRT1514708	hsa-miR-630	CLIP-seq
MIRT2155422	hsa-miR-638	CLIP-seq
MIRT2375163	hsa-miR-645	CLIP-seq
MIRT1514711	hsa-miR-670	CLIP-seq
MIRT2155423	hsa-miR-769-3p	CLIP-seq
MIRT2667697	hsa-miR-875-3p	CLIP-seq
MIRT1514712	hsa-miR-889	CLIP-seq
MIRT2667698	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0003231	Process	Cardiac ventricle development	IEA
GO:0003417	Process	Growth plate cartilage development	IEA
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0004175	Function	Endopeptidase activity	IDA	33293369
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	23539603, 28169297, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	10373325
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006925	Process	Inflammatory cell apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006997	Process	Nucleus organization	IEA
GO:0006998	Process	Nuclear envelope organization	IDA	2188730
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008235	Function	Metalloexopeptidase activity	TAS	10373325
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010906	Process	Regulation of glucose metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019216	Process	Regulation of lipid metabolic process	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030327	Process	Prenylated protein catabolic process	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IEA
GO:0032991	Component	Protein-containing complex	IDA	28246125
GO:0035264	Process	Multicellular organism growth	IEA
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IEA
GO:0043007	Process	Maintenance of rDNA	IEA
GO:0043516	Process	Regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0044029	Process	Positive regulation of gene expression via chromosomal CpG island demethylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048145	Process	Regulation of fibroblast proliferation	IEA
GO:0048538	Process	Thymus development	IEA
GO:0050688	Process	Regulation of defense response to virus	IDA	28246125
GO:0050688	Process	Regulation of defense response to virus	IEA
GO:0050688	Process	Regulation of defense response to virus	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051604	Process	Protein maturation	IDA	33293369
GO:0051604	Process	Protein maturation	IDA	33293369
GO:0051604	Process	Protein maturation	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IEA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0061337	Process	Cardiac conduction	IEA
GO:0061762	Process	CAMKK-AMPK signaling cascade	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070302	Process	Regulation of stress-activated protein kinase signaling cascade	IEA
GO:0071480	Process	Cellular response to gamma radiation	IEA
GO:0071586	Process	CAAX-box protein processing	IBA
GO:0071586	Process	CAAX-box protein processing	IEA
GO:0072423	Process	Response to DNA damage checkpoint signaling	IEA
GO:1903463	Process	Regulation of mitotic cell cycle DNA replication	IEA
GO:1903522	Process	Regulation of blood circulation	IEA
GO:1903799	Process	Negative regulation of miRNA processing	IEA
GO:1990036	Process	Calcium ion import into sarcoplasmic reticulum	IEA
GO:2000730	Process	Regulation of termination of RNA polymerase I transcription	IEA
GO:2000772	Process	Regulation of cellular senescence	IEA

Other IDs

• MIM: 606480
• HGNC: 12877
• e!Ensembl: ENSG00000084073

Protein

• UniProt ID: O75844
• Protein name: CAAX prenyl protease 1 homolog (EC 3.4.24.84) (Farnesylated proteins-converting enzyme 1) (FACE-1) (Prenyl protein-specific endoprotease 1) (Zinc metalloproteinase Ste24 homolog)
• Protein function: Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically remove
• PDB: 2YPT, 4AW6, 5SYT, 6BH8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16491	Peptidase_M48_N	41 → 225	CAAX prenyl protease N-terminal, five membrane helices	Domain
  PF01435	Peptidase_M48	228 → 473	Peptidase family M48	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. High levels in kidney, prostate, testis and ovary. {ECO:0000269|PubMed:10076063}.
• Sequence:

  MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMD
  SETFEKSRLYQLDKSTFSFWSGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEI
  TQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFFMKDAIKKFVVTQCILLP
  VSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
  MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGM
  EPRNEEEGNSEEIKAKVKNKKQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCF
  FLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVLSFCLTVLSRRFEFQADA
  FAKKLGKAKDLYSALIKLNKDNLGFPVSDWLFSMWHYSHPPLLERLQALKTMKQH

• Sequence length: 475

Pathways

KEGG:

Terpenoid backbone biosynthesis

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
Lethal tight skin contracture syndrome	Pathogenic; Likely pathogenic	rs312262686, rs281875370, rs2522367272, rs137854889, rs267607181, rs281875361, rs281875367, rs281875360, rs786205123, rs1569668526	RCV001727596 RCV002492493 RCV002289370 RCV000023547 RCV000004497 RCV000023548 RCV000023549 RCV000034313 RCV000034314 RCV000986288	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mandibuloacral dysplasia with type B lipodystrophy	Pathogenic; Likely pathogenic	rs312262686, rs281875369, rs281875370, rs137854889, rs121908093, rs121908094, rs121908095, rs1217416700, rs281875376	RCV004798783 RCV003147343 RCV002492493 RCV000004492 RCV000004493 RCV000004495 RCV000004496 RCV003147886 RCV000023550	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Restrictive dermopathy 1	Pathogenic	rs137854889, rs2522418687	RCV004593959 RCV004595124	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ZMPSTE24-related disorder	Pathogenic; Likely pathogenic	rs137854889, rs1217416700	RCV000335839 RCV005230463	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOACRAL DYSOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysplasia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTRICTIVE DERMOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	CTD_human_DG	12913070, 17152860		★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	BEFREE	20631028		★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	BEFREE	29526028		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	15608054		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	19128803		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	19128803		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15205220, 26724531		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15205220, 26724531		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	3494689		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27557380		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17152860		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17152860		★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	30548811	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	16129834, 18796515, 30830726		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	30548811	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31525963		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27729169		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	15980864		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	BEFREE	20631028		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	21267004		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30548811	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21471729		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15317753, 15843403, 16297189, 16364671, 18671782, 20101687, 21108632, 22746836, 23686339, 23804595, 24169522		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29526462	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29526462		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	12913070, 20631028, 25286833		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29484800		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	17152860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	17152860		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	31856865	Associate	★☆☆☆☆ Found in Text Mining only
Hutchinson-Gilford progeria syndrome	Hutchinson-Gilford Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	17152860		★☆☆☆☆ Found in Text Mining only
Hydrops of placenta	Hydropic placenta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20814950, 25286833	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17152860		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	GENOMICS_ENGLAND_DG	15843403		★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	ORPHANET_DG	18470519, 19020898		★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lethal tight skin contracture syndrome (disorder)	Lethal tight skin contracture syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28246125		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	CTD_human_DG	12913070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	BEFREE	16409151, 18230615, 20074077, 21865368, 26724531, 27841971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	Pubtator	20814950	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27557380		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28342988		★☆☆☆☆ Found in Text Mining only
Mandibular Diseases	Mandibular Diseases	CTD_human_DG	12913070		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	12913070, 16364671, 17152860, 17374881, 18435794, 18796515, 20550970, 20631028, 20814950, 21267004, 29208544, 30548811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibuloacral dysplasia with type A lipodystrophy	Mandibuloacral dysplasia	Pubtator	18435794, 18796515, 20814950, 30548811, 36927562, 38050983	Associate	★☆☆☆☆ Found in Text Mining only
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	GENOMICS_ENGLAND_DG	12913070, 15317753, 17152860, 18435794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	ORPHANET_DG	12913070, 18435794		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	UNIPROT_DG	12913070, 17152860, 18435794, 20814950		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mandibuloacral dysplasia with type B lipodystrophy	Mandibuloacral Dysplasia With Lipodystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mandibuloacral dysplasia with type B lipodystrophy	Mandibuloacral dysplasia	Pubtator	21267004, 25286833, 29794150, 31856865, 35597529, 36927562	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	BEFREE	27410998		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	Mandibuloacral Dysplasia With Lipodystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maternal hypertension	Maternal hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23539603		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	34003736	Associate	★☆☆☆☆ Found in Text Mining only
Microcolon	Microcolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	20814950		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	Pubtator	20814950	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	21267004	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	3026676, 3255389		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	3255389		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15608054, 31120193		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	15130666, 18443001, 18513784, 19453269, 23539603, 30625386		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	15205220, 15479179, 15608054, 15671064, 16093717, 16129834, 16207929, 16461887, 16671095, 17459035, 17848622, 19851476, 20979188, 21549337, 21746928, 22103512, 22355414, 23539603, 23686339, 24067370, 28990109, 30001457, 30625386, 31312666, 31411525		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	ORPHANET_DG	16671095		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	CTD_human_DG	23217256		★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24067370		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	25286833		★☆☆☆☆ Found in Text Mining only
Restrictive dermopathy	Restrictive Dermopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	19645629		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	20631028		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinus Tachycardia	Sinus Tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	18435794	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29484800		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	19645629		★☆☆☆☆ Found in Text Mining only
Temporomandibular ankylosis	Temporomandibular Ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tight skin contracture syndrome lethal	Tight skin contracture syndrome	Pubtator	16297189, 21108632, 21267004, 23597553, 24169522, 29794150, 35597529	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20101687		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	34003736	Associate	★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	HPO_DG			★☆☆☆☆ Found in Text Mining only