Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1371
Gene name	Coproporphyrinogen oxidase
Gene symbol	CPOX
Synonyms (NCBI Gene)	COXCPOCPXHARPOHCP
Chromosome	3
Chromosome location	3q11.2
Summary	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen I

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28931603	G>A	Pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs121917866	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121917868	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121917870	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121917871	G>A,C	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs121917872	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121917873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121917874	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs370245685	T>C	Pathogenic	Intron variant
rs576756431	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777271	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs781627991	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs786205053	->CGCTG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786205054	TGCCAGAGCCTGGCACACCTG>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1553696121	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559677768	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1576304776	A>C	Likely-pathogenic	Splice donor variant
rs1576306536	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1576306935	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

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Show/Hide all (339)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001374	hsa-miR-1-3p	pSILAC	18668040
MIRT019712	hsa-miR-375	Microarray	20215506
MIRT020103	hsa-miR-361-5p	Sequencing	20371350
MIRT022424	hsa-miR-124-3p	Microarray	18668037
MIRT001374	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT027462	hsa-miR-98-5p	Microarray	19088304
MIRT028461	hsa-miR-30a-5p	Proteomics	18668040
MIRT047853	hsa-miR-30c-5p	CLASH	23622248
MIRT046519	hsa-miR-15b-5p	CLASH	23622248
MIRT036635	hsa-miR-937-3p	CLASH	23622248
MIRT450431	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450430	hsa-miR-1323	PAR-CLIP	22100165
MIRT450429	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT450428	hsa-miR-643	PAR-CLIP	22100165
MIRT450427	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450426	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT450425	hsa-miR-578	PAR-CLIP	22100165
MIRT440887	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440886	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440884	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440887	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727949	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727948	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727947	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727946	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT727945	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727943	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727944	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727942	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT440886	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440884	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT450431	hsa-miR-5582-3p	PAR-CLIP	22100165
MIRT450430	hsa-miR-1323	PAR-CLIP	22100165
MIRT450429	hsa-miR-548o-3p	PAR-CLIP	22100165
MIRT450428	hsa-miR-643	PAR-CLIP	22100165
MIRT450427	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450426	hsa-miR-6869-5p	PAR-CLIP	22100165
MIRT450425	hsa-miR-578	PAR-CLIP	22100165
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT906790	hsa-miR-1200	CLIP-seq
MIRT906791	hsa-miR-1305	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT906793	hsa-miR-181a	CLIP-seq
MIRT906794	hsa-miR-181b	CLIP-seq
MIRT906795	hsa-miR-181c	CLIP-seq
MIRT906796	hsa-miR-181d	CLIP-seq
MIRT906797	hsa-miR-200b	CLIP-seq
MIRT906798	hsa-miR-200c	CLIP-seq
MIRT906799	hsa-miR-204	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT906802	hsa-miR-211	CLIP-seq
MIRT906803	hsa-miR-2113	CLIP-seq
MIRT906804	hsa-miR-23a	CLIP-seq
MIRT906805	hsa-miR-23b	CLIP-seq
MIRT906806	hsa-miR-23c	CLIP-seq
MIRT906807	hsa-miR-2467-3p	CLIP-seq
MIRT906808	hsa-miR-3074-5p	CLIP-seq
MIRT906809	hsa-miR-30a	CLIP-seq
MIRT906810	hsa-miR-30b	CLIP-seq
MIRT906811	hsa-miR-30c	CLIP-seq
MIRT906812	hsa-miR-30d	CLIP-seq
MIRT906813	hsa-miR-30e	CLIP-seq
MIRT906814	hsa-miR-3117-5p	CLIP-seq
MIRT906815	hsa-miR-3123	CLIP-seq
MIRT906816	hsa-miR-3127-5p	CLIP-seq
MIRT906817	hsa-miR-3163	CLIP-seq
MIRT906818	hsa-miR-323-3p	CLIP-seq
MIRT906819	hsa-miR-3646	CLIP-seq
MIRT906820	hsa-miR-3653	CLIP-seq
MIRT906821	hsa-miR-3657	CLIP-seq
MIRT906822	hsa-miR-3658	CLIP-seq
MIRT906823	hsa-miR-3662	CLIP-seq
MIRT906824	hsa-miR-3678-3p	CLIP-seq
MIRT906825	hsa-miR-3685	CLIP-seq
MIRT906826	hsa-miR-3688-5p	CLIP-seq
MIRT906827	hsa-miR-369-3p	CLIP-seq
MIRT906828	hsa-miR-374a	CLIP-seq
MIRT906829	hsa-miR-374b	CLIP-seq
MIRT906830	hsa-miR-384	CLIP-seq
MIRT906831	hsa-miR-3913-3p	CLIP-seq
MIRT906832	hsa-miR-3919	CLIP-seq
MIRT906833	hsa-miR-3938	CLIP-seq
MIRT906834	hsa-miR-3978	CLIP-seq
MIRT906835	hsa-miR-4261	CLIP-seq
MIRT906836	hsa-miR-4262	CLIP-seq
MIRT906837	hsa-miR-4270	CLIP-seq
MIRT906838	hsa-miR-429	CLIP-seq
MIRT906839	hsa-miR-433	CLIP-seq
MIRT906840	hsa-miR-4441	CLIP-seq
MIRT906841	hsa-miR-4474-3p	CLIP-seq
MIRT906842	hsa-miR-4669	CLIP-seq
MIRT906843	hsa-miR-4704-5p	CLIP-seq
MIRT906844	hsa-miR-4712-3p	CLIP-seq
MIRT906845	hsa-miR-4719	CLIP-seq
MIRT906846	hsa-miR-4733-5p	CLIP-seq
MIRT906847	hsa-miR-4755-5p	CLIP-seq
MIRT906848	hsa-miR-4760-3p	CLIP-seq
MIRT906849	hsa-miR-4774-3p	CLIP-seq
MIRT906850	hsa-miR-485-3p	CLIP-seq
MIRT906851	hsa-miR-487a	CLIP-seq
MIRT906852	hsa-miR-489	CLIP-seq
MIRT906853	hsa-miR-519a	CLIP-seq
MIRT906854	hsa-miR-519b-3p	CLIP-seq
MIRT906855	hsa-miR-519c-3p	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT906857	hsa-miR-548t	CLIP-seq
MIRT906858	hsa-miR-570	CLIP-seq
MIRT906859	hsa-miR-623	CLIP-seq
MIRT906860	hsa-miR-676	CLIP-seq
MIRT906861	hsa-miR-890	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT906790	hsa-miR-1200	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT906793	hsa-miR-181a	CLIP-seq
MIRT906794	hsa-miR-181b	CLIP-seq
MIRT906795	hsa-miR-181c	CLIP-seq
MIRT906796	hsa-miR-181d	CLIP-seq
MIRT1968725	hsa-miR-190	CLIP-seq
MIRT1968726	hsa-miR-190b	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT906804	hsa-miR-23a	CLIP-seq
MIRT906805	hsa-miR-23b	CLIP-seq
MIRT906806	hsa-miR-23c	CLIP-seq
MIRT906807	hsa-miR-2467-3p	CLIP-seq
MIRT906808	hsa-miR-3074-5p	CLIP-seq
MIRT906814	hsa-miR-3117-5p	CLIP-seq
MIRT1968727	hsa-miR-3121-3p	CLIP-seq
MIRT906815	hsa-miR-3123	CLIP-seq
MIRT906817	hsa-miR-3163	CLIP-seq
MIRT906819	hsa-miR-3646	CLIP-seq
MIRT1968728	hsa-miR-3660	CLIP-seq
MIRT906824	hsa-miR-3678-3p	CLIP-seq
MIRT1968729	hsa-miR-3691-3p	CLIP-seq
MIRT1968730	hsa-miR-3692	CLIP-seq
MIRT906832	hsa-miR-3919	CLIP-seq
MIRT906836	hsa-miR-4262	CLIP-seq
MIRT1968731	hsa-miR-4272	CLIP-seq
MIRT1968732	hsa-miR-4522	CLIP-seq
MIRT1968733	hsa-miR-4526	CLIP-seq
MIRT906843	hsa-miR-4704-5p	CLIP-seq
MIRT906844	hsa-miR-4712-3p	CLIP-seq
MIRT1968734	hsa-miR-4714-5p	CLIP-seq
MIRT906846	hsa-miR-4733-5p	CLIP-seq
MIRT1968735	hsa-miR-4756-3p	CLIP-seq
MIRT1968736	hsa-miR-4766-5p	CLIP-seq
MIRT906853	hsa-miR-519a	CLIP-seq
MIRT906854	hsa-miR-519b-3p	CLIP-seq
MIRT906855	hsa-miR-519c-3p	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT906857	hsa-miR-548t	CLIP-seq
MIRT1968737	hsa-miR-654-3p	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT1968738	hsa-miR-95	CLIP-seq
MIRT2204859	hsa-let-7a	CLIP-seq
MIRT2204860	hsa-let-7b	CLIP-seq
MIRT2204861	hsa-let-7c	CLIP-seq
MIRT2204862	hsa-let-7d	CLIP-seq
MIRT2204863	hsa-let-7e	CLIP-seq
MIRT2204864	hsa-let-7f	CLIP-seq
MIRT2204865	hsa-let-7g	CLIP-seq
MIRT2204866	hsa-let-7i	CLIP-seq
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT2204867	hsa-miR-1229	CLIP-seq
MIRT2204868	hsa-miR-1253	CLIP-seq
MIRT2204869	hsa-miR-1297	CLIP-seq
MIRT2204870	hsa-miR-1303	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT906793	hsa-miR-181a	CLIP-seq
MIRT906794	hsa-miR-181b	CLIP-seq
MIRT906795	hsa-miR-181c	CLIP-seq
MIRT906796	hsa-miR-181d	CLIP-seq
MIRT1968725	hsa-miR-190	CLIP-seq
MIRT1968726	hsa-miR-190b	CLIP-seq
MIRT2204871	hsa-miR-1913	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT2204872	hsa-miR-2277-3p	CLIP-seq
MIRT906804	hsa-miR-23a	CLIP-seq
MIRT906805	hsa-miR-23b	CLIP-seq
MIRT906806	hsa-miR-23c	CLIP-seq
MIRT906807	hsa-miR-2467-3p	CLIP-seq
MIRT2204873	hsa-miR-26a	CLIP-seq
MIRT2204874	hsa-miR-26b	CLIP-seq
MIRT906809	hsa-miR-30a	CLIP-seq
MIRT906810	hsa-miR-30b	CLIP-seq
MIRT906811	hsa-miR-30c	CLIP-seq
MIRT906812	hsa-miR-30d	CLIP-seq
MIRT906813	hsa-miR-30e	CLIP-seq
MIRT906814	hsa-miR-3117-5p	CLIP-seq
MIRT906815	hsa-miR-3123	CLIP-seq
MIRT906816	hsa-miR-3127-5p	CLIP-seq
MIRT906817	hsa-miR-3163	CLIP-seq
MIRT2204875	hsa-miR-324-3p	CLIP-seq
MIRT906819	hsa-miR-3646	CLIP-seq
MIRT1968728	hsa-miR-3660	CLIP-seq
MIRT906823	hsa-miR-3662	CLIP-seq
MIRT906824	hsa-miR-3678-3p	CLIP-seq
MIRT1968730	hsa-miR-3692	CLIP-seq
MIRT906832	hsa-miR-3919	CLIP-seq
MIRT2204876	hsa-miR-425	CLIP-seq
MIRT906836	hsa-miR-4262	CLIP-seq
MIRT906837	hsa-miR-4270	CLIP-seq
MIRT2204877	hsa-miR-4420	CLIP-seq
MIRT2204878	hsa-miR-4434	CLIP-seq
MIRT906840	hsa-miR-4441	CLIP-seq
MIRT2204879	hsa-miR-4458	CLIP-seq
MIRT2204880	hsa-miR-4465	CLIP-seq
MIRT2204881	hsa-miR-4500	CLIP-seq
MIRT2204882	hsa-miR-4516	CLIP-seq
MIRT1968732	hsa-miR-4522	CLIP-seq
MIRT1968733	hsa-miR-4526	CLIP-seq
MIRT2204883	hsa-miR-4531	CLIP-seq
MIRT906843	hsa-miR-4704-5p	CLIP-seq
MIRT1968734	hsa-miR-4714-5p	CLIP-seq
MIRT2204884	hsa-miR-4727-5p	CLIP-seq
MIRT906846	hsa-miR-4733-5p	CLIP-seq
MIRT2204885	hsa-miR-4769-3p	CLIP-seq
MIRT2204886	hsa-miR-495	CLIP-seq
MIRT906853	hsa-miR-519a	CLIP-seq
MIRT906854	hsa-miR-519b-3p	CLIP-seq
MIRT906855	hsa-miR-519c-3p	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT2204887	hsa-miR-520d-5p	CLIP-seq
MIRT2204888	hsa-miR-524-5p	CLIP-seq
MIRT906857	hsa-miR-548t	CLIP-seq
MIRT2204889	hsa-miR-668	CLIP-seq
MIRT906860	hsa-miR-676	CLIP-seq
MIRT2204890	hsa-miR-759	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT1968738	hsa-miR-95	CLIP-seq
MIRT2204891	hsa-miR-98	CLIP-seq
MIRT2386424	hsa-miR-3617	CLIP-seq
MIRT1968728	hsa-miR-3660	CLIP-seq
MIRT1968733	hsa-miR-4526	CLIP-seq
MIRT906845	hsa-miR-4719	CLIP-seq
MIRT2386425	hsa-miR-641	CLIP-seq
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT906807	hsa-miR-2467-3p	CLIP-seq
MIRT906815	hsa-miR-3123	CLIP-seq
MIRT906824	hsa-miR-3678-3p	CLIP-seq
MIRT1968730	hsa-miR-3692	CLIP-seq
MIRT906832	hsa-miR-3919	CLIP-seq
MIRT906846	hsa-miR-4733-5p	CLIP-seq
MIRT2204886	hsa-miR-495	CLIP-seq
MIRT906853	hsa-miR-519a	CLIP-seq
MIRT906854	hsa-miR-519b-3p	CLIP-seq
MIRT906855	hsa-miR-519c-3p	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT906857	hsa-miR-548t	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT2508221	hsa-miR-128	CLIP-seq
MIRT2204869	hsa-miR-1297	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT2204872	hsa-miR-2277-3p	CLIP-seq
MIRT2204873	hsa-miR-26a	CLIP-seq
MIRT2204874	hsa-miR-26b	CLIP-seq
MIRT2508222	hsa-miR-3064-3p	CLIP-seq
MIRT2508223	hsa-miR-3150a-3p	CLIP-seq
MIRT2508224	hsa-miR-3175	CLIP-seq
MIRT2508225	hsa-miR-3622b-5p	CLIP-seq
MIRT906826	hsa-miR-3688-5p	CLIP-seq
MIRT2508226	hsa-miR-371-3p	CLIP-seq
MIRT2508227	hsa-miR-3973	CLIP-seq
MIRT2508228	hsa-miR-4282	CLIP-seq
MIRT2508229	hsa-miR-4290	CLIP-seq
MIRT2204880	hsa-miR-4465	CLIP-seq
MIRT2508230	hsa-miR-4470	CLIP-seq
MIRT2508231	hsa-miR-4724-3p	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT2508232	hsa-miR-520g	CLIP-seq
MIRT2508233	hsa-miR-520h	CLIP-seq
MIRT2508234	hsa-miR-548a-5p	CLIP-seq
MIRT2508235	hsa-miR-548ab	CLIP-seq
MIRT2508236	hsa-miR-548ak	CLIP-seq
MIRT2508237	hsa-miR-548b-5p	CLIP-seq
MIRT2508238	hsa-miR-548c-5p	CLIP-seq
MIRT2508239	hsa-miR-548d-5p	CLIP-seq
MIRT2508240	hsa-miR-548h	CLIP-seq
MIRT2508241	hsa-miR-548i	CLIP-seq
MIRT2508242	hsa-miR-548j	CLIP-seq
MIRT2508243	hsa-miR-548w	CLIP-seq
MIRT2508244	hsa-miR-548y	CLIP-seq
MIRT2508245	hsa-miR-559	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT2508246	hsa-miR-939	CLIP-seq
MIRT2204859	hsa-let-7a	CLIP-seq
MIRT2204860	hsa-let-7b	CLIP-seq
MIRT2204861	hsa-let-7c	CLIP-seq
MIRT2204862	hsa-let-7d	CLIP-seq
MIRT2204863	hsa-let-7e	CLIP-seq
MIRT2204864	hsa-let-7f	CLIP-seq
MIRT2204865	hsa-let-7g	CLIP-seq
MIRT2204866	hsa-let-7i	CLIP-seq
MIRT906788	hsa-miR-106a	CLIP-seq
MIRT906789	hsa-miR-106b	CLIP-seq
MIRT2204868	hsa-miR-1253	CLIP-seq
MIRT2508221	hsa-miR-128	CLIP-seq
MIRT906792	hsa-miR-17	CLIP-seq
MIRT2204871	hsa-miR-1913	CLIP-seq
MIRT906800	hsa-miR-20a	CLIP-seq
MIRT906801	hsa-miR-20b	CLIP-seq
MIRT2204872	hsa-miR-2277-3p	CLIP-seq
MIRT906807	hsa-miR-2467-3p	CLIP-seq
MIRT2508222	hsa-miR-3064-3p	CLIP-seq
MIRT2508223	hsa-miR-3150a-3p	CLIP-seq
MIRT2508224	hsa-miR-3175	CLIP-seq
MIRT2204875	hsa-miR-324-3p	CLIP-seq
MIRT2508225	hsa-miR-3622b-5p	CLIP-seq
MIRT906824	hsa-miR-3678-3p	CLIP-seq
MIRT906826	hsa-miR-3688-5p	CLIP-seq
MIRT2508226	hsa-miR-371-3p	CLIP-seq
MIRT2508229	hsa-miR-4290	CLIP-seq
MIRT2204878	hsa-miR-4434	CLIP-seq
MIRT2204879	hsa-miR-4458	CLIP-seq
MIRT2508230	hsa-miR-4470	CLIP-seq
MIRT2204881	hsa-miR-4500	CLIP-seq
MIRT2204882	hsa-miR-4516	CLIP-seq
MIRT2204883	hsa-miR-4531	CLIP-seq
MIRT906856	hsa-miR-519d	CLIP-seq
MIRT2508232	hsa-miR-520g	CLIP-seq
MIRT2508233	hsa-miR-520h	CLIP-seq
MIRT2204890	hsa-miR-759	CLIP-seq
MIRT906862	hsa-miR-93	CLIP-seq
MIRT2508246	hsa-miR-939	CLIP-seq
MIRT2204891	hsa-miR-98	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004109	Function	Coproporphyrinogen oxidase activity	IBA
GO:0004109	Function	Coproporphyrinogen oxidase activity	IDA	7987309
GO:0004109	Function	Coproporphyrinogen oxidase activity	IEA
GO:0004109	Function	Coproporphyrinogen oxidase activity	TAS	9888388
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8407975
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	ISS
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IBA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IDA	7987309
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS	8159699
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	7987309
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0010039	Process	Response to iron ion	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0017085	Process	Response to insecticide	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16176984
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0051597	Process	Response to methylmercury	IEA

MIM	HGNC	e!Ensembl
612732	2321	ENSG00000080819

P36551

Protein name

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (COX) (Coprogen oxidase) (Coproporphyrinogenase) (EC 1.3.3.3)

Protein function

Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway. {ECO:0000269|

PDB

2AEX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01218	Coprogen_oxidas	151 → 453	Coproporphyrinogen III oxidase	Family

Sequence

MALQLGRLSSGPCWLVARGGCGGPRAWSQCGGGGLRAWSQRSAAGRVCRPPGPAGTEQSR
GLGHGSTSRGGPWVGTGLAAALAGLVGLATAAFGHVQRAEMLPKTSGTRATSLGRPEEEE
DELAHRCSSFMAPPVTDLGELRRRPGDMKTKMELLILETQAQVCQALAQVDGGANFSVDR
WERKEGGGGISCVLQDGCVFEKAGVSISVVHGNLSEEAAKQMRSRGKVLKTKDGKLPFCA
MGVSSVIHPKNPHAPTIHFNYRYFEVEEADGNKQWWFGGGCDLTPTYLNQEDAVHFHRTL
KEACDQHGPDLYPKFKKWCDDYFFIAHRGERRGIGGIFFDDLDSPSKEEVFRFVQSCARA
VVPSYIPLVKKHCDDSFTPQEKLWQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMS
LPLTARWEYMHSPSENSKEAEILEVLRHPRDWVR

Sequence length

454

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors		Heme biosynthesis

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Coproporphyria	Pathogenic	rs2107113853, rs786205053, rs786205054, rs121917870, rs121917871, rs121917872, rs121917873, rs1559677768	RCV000000481 RCV000000483 RCV000000484 RCV000000485 RCV000000487 RCV000000489 RCV000000490 RCV000000491 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COPROPORPHYRIA, DIGENIC	Pathogenic	rs121917874	RCV000000492	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CPOX-related disorder	Pathogenic	rs786205053	RCV003415602	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CPOX-related hereditary coproporphyria	Likely pathogenic; Pathogenic	rs121917868, rs2472120866	RCV005357050 RCV003994627	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Harderoporphyria	Pathogenic; Likely pathogenic	rs587777271, rs121917868, rs1576304776	RCV000114373 RCV000000482 RCV002226559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary coproporphyria	Likely pathogenic; Pathogenic	rs121917868, rs1576304776, rs2472111058, rs1576306536, rs1374394802	RCV002496220 RCV002226559 RCV002290305 RCV000987299 RCV003226429	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute intermittent porphyria	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COPROPORPHYRIA, HEREDITARY	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA CUTANEA TARDA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (175)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	11248690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	14669009		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28013106, 29051180, 30119908, 30837643, 31173485, 31547736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27866983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15807932, 19307727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15807932, 19205707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	30541745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Neonatal	Neonatal anemia	Pubtator	11309681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	BEFREE	12204278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28552098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28122051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19390242, 30210691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15316498, 19390242, 30961940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28122051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29161772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22471974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	21824890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	21824890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16480277, 16498361, 18192694, 20878073, 23570558, 25339205, 26275572, 27881013, 27994517, 29620140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28416355, 28693228, 9823297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28817811, 30073577, 31138322, 7706493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	20051370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23978451, 29506471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27334522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	BEFREE	29516413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19795413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	21426319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31315603		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11344234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	11344234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	30541745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29212234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28611444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16083281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17483440, 26893822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate with Ankyloglossia	Cleft Palate With Ankyloglossia	BEFREE	11559848, 12374769, 19418442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10931458, 16091009, 21885812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15075004, 15807932, 17981262, 19307727, 20717114, 20815902, 26997150, 30944670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	31505085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	28883741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lactic acidosis	Congenital lactic acidosis	BEFREE	21266382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28692117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coproporphyria	Coproporphyria	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Coproporphyria Hereditary	Hereditary coproporphyria	Pubtator	11309681, 16176984, 16398658, 19460837, 21103937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coproporphyria Hereditary	Hereditary coproporphyria	Pubtator	21734717	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27995364, 28658301		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10656877, 11591888, 12083969		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	16288875, 18499082, 21266382, 9402980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28499915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29127031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29182380, 29582538		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28742983, 28752370, 29182380, 29582538, 30123357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	14669009, 16398658, 21734717, 7592568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	29795634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29660996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	22805469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	11344234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28611669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	30630527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21824890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24652192, 28718447, 31690341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24652192, 28718447, 31690341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15465602, 28915652, 30761522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harderoporphyria	Harderoporphyria	BEFREE	11309681, 21103937, 30828546, 6886003, 7757079, 8012360, 9454777		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Harderoporphyria	Harderoporphyria	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20654727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30566230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Coproporphyria	Hereditary Coproporphyria	BEFREE	11202054, 11309681, 11929047, 12181641, 12699245, 14669009, 16176984, 21103937, 21231929, 23582006, 24078084, 29660996, 30476629, 31153822, 6886003 View all (7 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Coproporphyria	Hereditary Coproporphyria	CTD_human_DG	11831056		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Coproporphyria	Hereditary Coproporphyria	UNIPROT_DG	12181641, 15896662, 16398658, 7757079, 7849704, 8012360, 8990017, 9048920, 9298818, 9888388		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Coproporphyria	Hereditary Coproporphyria	LHGDN	16176984		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary coproporphyria	Hereditary Coproporphyria	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Coproporphyria	Hereditary Coproporphyria	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Coproporphyria	Hereditary Coproporphyria	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertensive disease	Hypertension	BEFREE	31587572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29468666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21218092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29127031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27318652, 31735164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	26277839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29212234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23231769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	21266382, 25164807, 31352295, 8781533, 9063742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome , French Canadian type	Leigh syndrome	BEFREE	15139850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28013106, 28286924, 28814164, 29051180, 29156201, 29167924, 29222237, 29264938, 29283906, 29296877, 29378418, 29532662, 29928134, 30113235, 30119908 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	30980769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	29037125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	27038534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18992912, 27888359, 28404963, 28703354, 29204817, 29514844, 29691085, 29991125, 30670911, 31011256, 31505085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	30940853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23231769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31187468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29157207, 29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	28409559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20654727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16480277, 16498361, 18192694, 20878073, 23570558, 25339205, 26275572, 27881013, 27994517, 29620140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29058818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28817811, 30073577, 31138322, 7706493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	29037125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23978451, 29506471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12533667, 20530583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16024246, 17680641, 29765153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27614952, 29941993, 30386106, 30662635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11448905, 16337272, 17691999, 19390242, 20392831, 21478098, 23624019, 23686770, 25842298, 26228058, 26566186, 27994517, 28703354, 28900840, 29247872, 30523664, 30844715, 31064095 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	11344234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16091009, 20654727, 21885812		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25382380		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	18990125, 22270878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28499915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	22270878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31581608		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27494851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	24277717, 24361111, 9063742, 9837813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	22345218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26724804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18286391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27923154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	24361111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	22805469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28816378, 29901162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11313976, 12533667, 15075004, 16928822, 18722548, 19278989, 21610322, 23592244, 23624019, 24652192, 24950702, 28454409, 28881293, 29484455, 29492489, 30897717, 31277140, 31384175 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28234943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20400478, 28986741, 30637589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	29685879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31524603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	20454697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29453810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	29484904		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23978451, 29506471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23360921, 26894380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	12533667		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30661062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	17078001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29468666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	9414643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphobilinogen synthase deficiency	Porphobilinogen Synthase Deficiency	BEFREE	21103937, 8024730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Hepatic	Porphyria	Pubtator	31073229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	19460837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	CTD_human_DG	11831056		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria Variegate	Variegate porphyria	Pubtator	19460837, 21734717, 31073229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyrias	Porphyria	Pubtator	16398658, 21734717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyrias, Hepatic	Hepatic porphyria	LHGDN	14669009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28719899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16024246, 17680641, 29765153		★★★★★ ★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	30549073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29468666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30566230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28752370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10701683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	38316340	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29855563		★★★★★ ★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	28030373, 29378418, 29908418, 29928134, 30024784, 30848394, 31173485, 31203994, 31760835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	21103937	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19278989, 28109322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19264847, 30643929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30246311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27614952, 29941993, 30079321, 30386106, 30662635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29425880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29771422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Mitochondrial trifunctional protein deficiency	BEFREE	20425236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30489199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	30338785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	21734717, 30476629		★★★★★ ★☆☆☆☆ Found in Text Mining only

CPOX (coproporphyrinogen oxidase)