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	2235
Gene name	Ferrochelatase
Gene symbol	FECH
Synonyms (NCBI Gene)	EPPEPP1FCE
Chromosome	18
Chromosome location	18q21.31
Summary	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2272783	A>C,G	Pathogenic-likely-pathogenic, uncertain-significance	Intron variant
rs118204039	A>G	Pathogenic	Missense variant, coding sequence variant
rs118204040	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs146269992	C>T	Pathogenic	Missense variant, coding sequence variant
rs146899669	A>C	Pathogenic	Missense variant, coding sequence variant
rs149067146	A>C	Pathogenic	Splice donor variant
rs150146721	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs202147607	T>C	Pathogenic	Intron variant
rs267606803	A>T	Pathogenic	Missense variant, coding sequence variant
rs267606804	G>A	Pathogenic	Missense variant, coding sequence variant
rs370708663	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs397514476	C>T	Pathogenic	Missense variant, coding sequence variant
rs764466739	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs765069812	G>A	Likely-pathogenic	Intron variant
rs765518889	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs786205245	C>A,T	Pathogenic	Splice donor variant
rs786205246	T>G	Pathogenic	Intron variant
rs786205247	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs786205248	ACTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255507	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1598996309	C>A	Pathogenic	Splice donor variant
rs1599003455	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

533

Show/Hide all (533)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022695	hsa-miR-124-3p	Microarray	18668037
MIRT051219	hsa-miR-16-5p	CLASH	23622248
MIRT050277	hsa-miR-25-3p	CLASH	23622248
MIRT036042	hsa-miR-1301-3p	CLASH	23622248
MIRT626825	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT626824	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626825	hsa-miR-6812-3p	HITS-CLIP	23824327
MIRT626824	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT994452	hsa-miR-1182	CLIP-seq
MIRT994453	hsa-miR-122	CLIP-seq
MIRT994454	hsa-miR-1228	CLIP-seq
MIRT994455	hsa-miR-1229	CLIP-seq
MIRT994456	hsa-miR-1254	CLIP-seq
MIRT994457	hsa-miR-1262	CLIP-seq
MIRT994458	hsa-miR-129-5p	CLIP-seq
MIRT994459	hsa-miR-150	CLIP-seq
MIRT994460	hsa-miR-1827	CLIP-seq
MIRT994461	hsa-miR-193a-5p	CLIP-seq
MIRT994462	hsa-miR-2052	CLIP-seq
MIRT994463	hsa-miR-25	CLIP-seq
MIRT994464	hsa-miR-3116	CLIP-seq
MIRT994465	hsa-miR-3122	CLIP-seq
MIRT994466	hsa-miR-3135b	CLIP-seq
MIRT994467	hsa-miR-3187-3p	CLIP-seq
MIRT994468	hsa-miR-32	CLIP-seq
MIRT994469	hsa-miR-363	CLIP-seq
MIRT994470	hsa-miR-3652	CLIP-seq
MIRT994471	hsa-miR-367	CLIP-seq
MIRT994472	hsa-miR-3674	CLIP-seq
MIRT994473	hsa-miR-3689a-3p	CLIP-seq
MIRT994474	hsa-miR-3689c	CLIP-seq
MIRT994475	hsa-miR-3690	CLIP-seq
MIRT994476	hsa-miR-3913-5p	CLIP-seq
MIRT994477	hsa-miR-3926	CLIP-seq
MIRT994478	hsa-miR-3936	CLIP-seq
MIRT994479	hsa-miR-4277	CLIP-seq
MIRT994480	hsa-miR-4290	CLIP-seq
MIRT994481	hsa-miR-4430	CLIP-seq
MIRT994482	hsa-miR-4433	CLIP-seq
MIRT994483	hsa-miR-4435	CLIP-seq
MIRT994484	hsa-miR-4499	CLIP-seq
MIRT994485	hsa-miR-4502	CLIP-seq
MIRT994486	hsa-miR-4638-3p	CLIP-seq
MIRT994487	hsa-miR-4649-3p	CLIP-seq
MIRT994488	hsa-miR-4676-5p	CLIP-seq
MIRT994489	hsa-miR-4701-3p	CLIP-seq
MIRT994490	hsa-miR-4701-5p	CLIP-seq
MIRT994491	hsa-miR-4705	CLIP-seq
MIRT994492	hsa-miR-4713-5p	CLIP-seq
MIRT994493	hsa-miR-4732-5p	CLIP-seq
MIRT994494	hsa-miR-532-3p	CLIP-seq
MIRT994495	hsa-miR-548s	CLIP-seq
MIRT994496	hsa-miR-575	CLIP-seq
MIRT994497	hsa-miR-588	CLIP-seq
MIRT994498	hsa-miR-661	CLIP-seq
MIRT994499	hsa-miR-665	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT994501	hsa-miR-92a	CLIP-seq
MIRT994502	hsa-miR-92b	CLIP-seq
MIRT994503	hsa-miR-1	CLIP-seq
MIRT994504	hsa-miR-1225-3p	CLIP-seq
MIRT994455	hsa-miR-1229	CLIP-seq
MIRT994505	hsa-miR-1233	CLIP-seq
MIRT994506	hsa-miR-1258	CLIP-seq
MIRT994507	hsa-miR-1269	CLIP-seq
MIRT994508	hsa-miR-1269b	CLIP-seq
MIRT994509	hsa-miR-1287	CLIP-seq
MIRT994510	hsa-miR-1324	CLIP-seq
MIRT994511	hsa-miR-1343	CLIP-seq
MIRT994512	hsa-miR-146b-3p	CLIP-seq
MIRT994459	hsa-miR-150	CLIP-seq
MIRT994513	hsa-miR-155	CLIP-seq
MIRT994460	hsa-miR-1827	CLIP-seq
MIRT994514	hsa-miR-188-5p	CLIP-seq
MIRT994515	hsa-miR-203	CLIP-seq
MIRT994516	hsa-miR-206	CLIP-seq
MIRT994517	hsa-miR-208a	CLIP-seq
MIRT994518	hsa-miR-208b	CLIP-seq
MIRT994519	hsa-miR-2114	CLIP-seq
MIRT994520	hsa-miR-28-5p	CLIP-seq
MIRT994521	hsa-miR-3117-5p	CLIP-seq
MIRT994522	hsa-miR-3130-5p	CLIP-seq
MIRT994466	hsa-miR-3135b	CLIP-seq
MIRT994523	hsa-miR-3139	CLIP-seq
MIRT994467	hsa-miR-3187-3p	CLIP-seq
MIRT994524	hsa-miR-335	CLIP-seq
MIRT994525	hsa-miR-3611	CLIP-seq
MIRT994526	hsa-miR-3612	CLIP-seq
MIRT994527	hsa-miR-3673	CLIP-seq
MIRT994528	hsa-miR-3691-5p	CLIP-seq
MIRT994529	hsa-miR-3910	CLIP-seq
MIRT994477	hsa-miR-3926	CLIP-seq
MIRT994530	hsa-miR-3929	CLIP-seq
MIRT994478	hsa-miR-3936	CLIP-seq
MIRT994531	hsa-miR-3940-5p	CLIP-seq
MIRT994532	hsa-miR-4266	CLIP-seq
MIRT994533	hsa-miR-4272	CLIP-seq
MIRT994479	hsa-miR-4277	CLIP-seq
MIRT994534	hsa-miR-432	CLIP-seq
MIRT994535	hsa-miR-4326	CLIP-seq
MIRT994536	hsa-miR-4419b	CLIP-seq
MIRT994537	hsa-miR-4424	CLIP-seq
MIRT994538	hsa-miR-4432	CLIP-seq
MIRT994482	hsa-miR-4433	CLIP-seq
MIRT994483	hsa-miR-4435	CLIP-seq
MIRT994539	hsa-miR-4443	CLIP-seq
MIRT994540	hsa-miR-4478	CLIP-seq
MIRT994541	hsa-miR-4482	CLIP-seq
MIRT994542	hsa-miR-4491	CLIP-seq
MIRT994543	hsa-miR-4493	CLIP-seq
MIRT994485	hsa-miR-4502	CLIP-seq
MIRT994544	hsa-miR-4504	CLIP-seq
MIRT994545	hsa-miR-4507	CLIP-seq
MIRT994546	hsa-miR-4522	CLIP-seq
MIRT994547	hsa-miR-4529-3p	CLIP-seq
MIRT994548	hsa-miR-4657	CLIP-seq
MIRT994488	hsa-miR-4676-5p	CLIP-seq
MIRT994490	hsa-miR-4701-5p	CLIP-seq
MIRT994492	hsa-miR-4713-5p	CLIP-seq
MIRT994549	hsa-miR-4722-5p	CLIP-seq
MIRT994550	hsa-miR-4752	CLIP-seq
MIRT994551	hsa-miR-4761-5p	CLIP-seq
MIRT994552	hsa-miR-4768-3p	CLIP-seq
MIRT994553	hsa-miR-4775	CLIP-seq
MIRT994554	hsa-miR-4780	CLIP-seq
MIRT994555	hsa-miR-483-3p	CLIP-seq
MIRT994556	hsa-miR-485-5p	CLIP-seq
MIRT994557	hsa-miR-486-5p	CLIP-seq
MIRT994558	hsa-miR-499-5p	CLIP-seq
MIRT994559	hsa-miR-509-3p	CLIP-seq
MIRT994560	hsa-miR-5096	CLIP-seq
MIRT994561	hsa-miR-516b	CLIP-seq
MIRT994494	hsa-miR-532-3p	CLIP-seq
MIRT994562	hsa-miR-548c-3p	CLIP-seq
MIRT994495	hsa-miR-548s	CLIP-seq
MIRT994563	hsa-miR-569	CLIP-seq
MIRT994496	hsa-miR-575	CLIP-seq
MIRT994497	hsa-miR-588	CLIP-seq
MIRT994564	hsa-miR-590-3p	CLIP-seq
MIRT994565	hsa-miR-605	CLIP-seq
MIRT994566	hsa-miR-613	CLIP-seq
MIRT994567	hsa-miR-623	CLIP-seq
MIRT994568	hsa-miR-650	CLIP-seq
MIRT994499	hsa-miR-665	CLIP-seq
MIRT994569	hsa-miR-708	CLIP-seq
MIRT994570	hsa-miR-890	CLIP-seq
MIRT994571	hsa-miR-940	CLIP-seq
MIRT994460	hsa-miR-1827	CLIP-seq
MIRT994571	hsa-miR-940	CLIP-seq
MIRT994503	hsa-miR-1	CLIP-seq
MIRT1994899	hsa-miR-1179	CLIP-seq
MIRT1994900	hsa-miR-1227	CLIP-seq
MIRT994455	hsa-miR-1229	CLIP-seq
MIRT1994901	hsa-miR-124	CLIP-seq
MIRT994458	hsa-miR-129-5p	CLIP-seq
MIRT994516	hsa-miR-206	CLIP-seq
MIRT1994902	hsa-miR-298	CLIP-seq
MIRT994465	hsa-miR-3122	CLIP-seq
MIRT1994903	hsa-miR-3128	CLIP-seq
MIRT1994904	hsa-miR-3145-5p	CLIP-seq
MIRT1994905	hsa-miR-3152-5p	CLIP-seq
MIRT1994906	hsa-miR-3154	CLIP-seq
MIRT1994907	hsa-miR-3177-3p	CLIP-seq
MIRT1994908	hsa-miR-3180-5p	CLIP-seq
MIRT1994909	hsa-miR-3607-3p	CLIP-seq
MIRT1994910	hsa-miR-3622a-5p	CLIP-seq
MIRT994527	hsa-miR-3673	CLIP-seq
MIRT994472	hsa-miR-3674	CLIP-seq
MIRT1994911	hsa-miR-3686	CLIP-seq
MIRT994476	hsa-miR-3913-5p	CLIP-seq
MIRT1994912	hsa-miR-4252	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT994479	hsa-miR-4277	CLIP-seq
MIRT1994914	hsa-miR-4297	CLIP-seq
MIRT1994915	hsa-miR-4453	CLIP-seq
MIRT994485	hsa-miR-4502	CLIP-seq
MIRT994544	hsa-miR-4504	CLIP-seq
MIRT1994916	hsa-miR-4538	CLIP-seq
MIRT1994917	hsa-miR-4684-5p	CLIP-seq
MIRT994493	hsa-miR-4732-5p	CLIP-seq
MIRT994553	hsa-miR-4775	CLIP-seq
MIRT1994918	hsa-miR-4778-5p	CLIP-seq
MIRT994555	hsa-miR-483-3p	CLIP-seq
MIRT1994919	hsa-miR-506	CLIP-seq
MIRT1994920	hsa-miR-508-5p	CLIP-seq
MIRT1994921	hsa-miR-520a-5p	CLIP-seq
MIRT1994922	hsa-miR-525-5p	CLIP-seq
MIRT1994923	hsa-miR-564	CLIP-seq
MIRT994564	hsa-miR-590-3p	CLIP-seq
MIRT994566	hsa-miR-613	CLIP-seq
MIRT1994924	hsa-miR-635	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT2228981	hsa-miR-4742-3p	CLIP-seq
MIRT2228982	hsa-miR-101	CLIP-seq
MIRT1994899	hsa-miR-1179	CLIP-seq
MIRT994453	hsa-miR-122	CLIP-seq
MIRT994504	hsa-miR-1225-3p	CLIP-seq
MIRT994454	hsa-miR-1228	CLIP-seq
MIRT994505	hsa-miR-1233	CLIP-seq
MIRT994457	hsa-miR-1262	CLIP-seq
MIRT2228983	hsa-miR-1273d	CLIP-seq
MIRT2228984	hsa-miR-1278	CLIP-seq
MIRT994510	hsa-miR-1324	CLIP-seq
MIRT2228985	hsa-miR-15a	CLIP-seq
MIRT2228986	hsa-miR-15b	CLIP-seq
MIRT2228987	hsa-miR-16	CLIP-seq
MIRT2228988	hsa-miR-195	CLIP-seq
MIRT2228989	hsa-miR-200b	CLIP-seq
MIRT2228990	hsa-miR-200c	CLIP-seq
MIRT994519	hsa-miR-2114	CLIP-seq
MIRT994466	hsa-miR-3135b	CLIP-seq
MIRT1994904	hsa-miR-3145-5p	CLIP-seq
MIRT1994905	hsa-miR-3152-5p	CLIP-seq
MIRT2228991	hsa-miR-3153	CLIP-seq
MIRT2228992	hsa-miR-3162-5p	CLIP-seq
MIRT2228993	hsa-miR-3163	CLIP-seq
MIRT1994908	hsa-miR-3180-5p	CLIP-seq
MIRT2228994	hsa-miR-3190	CLIP-seq
MIRT2228995	hsa-miR-338-3p	CLIP-seq
MIRT2228996	hsa-miR-340	CLIP-seq
MIRT1994909	hsa-miR-3607-3p	CLIP-seq
MIRT994526	hsa-miR-3612	CLIP-seq
MIRT2228997	hsa-miR-3614-5p	CLIP-seq
MIRT994470	hsa-miR-3652	CLIP-seq
MIRT2228998	hsa-miR-3661	CLIP-seq
MIRT2228999	hsa-miR-3663-5p	CLIP-seq
MIRT1994911	hsa-miR-3686	CLIP-seq
MIRT994473	hsa-miR-3689a-3p	CLIP-seq
MIRT994474	hsa-miR-3689c	CLIP-seq
MIRT2229000	hsa-miR-3689d	CLIP-seq
MIRT994530	hsa-miR-3929	CLIP-seq
MIRT2229001	hsa-miR-424	CLIP-seq
MIRT1994912	hsa-miR-4252	CLIP-seq
MIRT2229002	hsa-miR-4254	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT2229003	hsa-miR-4281	CLIP-seq
MIRT2229004	hsa-miR-429	CLIP-seq
MIRT994480	hsa-miR-4290	CLIP-seq
MIRT2229005	hsa-miR-4292	CLIP-seq
MIRT2229006	hsa-miR-4308	CLIP-seq
MIRT2229007	hsa-miR-4318	CLIP-seq
MIRT994534	hsa-miR-432	CLIP-seq
MIRT994536	hsa-miR-4419b	CLIP-seq
MIRT994481	hsa-miR-4430	CLIP-seq
MIRT994539	hsa-miR-4443	CLIP-seq
MIRT1994915	hsa-miR-4453	CLIP-seq
MIRT2229008	hsa-miR-4459	CLIP-seq
MIRT994540	hsa-miR-4478	CLIP-seq
MIRT2229009	hsa-miR-450b-3p	CLIP-seq
MIRT2229010	hsa-miR-4519	CLIP-seq
MIRT2229011	hsa-miR-4530	CLIP-seq
MIRT1994916	hsa-miR-4538	CLIP-seq
MIRT994488	hsa-miR-4676-5p	CLIP-seq
MIRT2229012	hsa-miR-4693-5p	CLIP-seq
MIRT994489	hsa-miR-4701-3p	CLIP-seq
MIRT994491	hsa-miR-4705	CLIP-seq
MIRT2229013	hsa-miR-4713-3p	CLIP-seq
MIRT2229014	hsa-miR-4728-5p	CLIP-seq
MIRT1994918	hsa-miR-4778-5p	CLIP-seq
MIRT2229015	hsa-miR-4786-5p	CLIP-seq
MIRT2229016	hsa-miR-4797-3p	CLIP-seq
MIRT994555	hsa-miR-483-3p	CLIP-seq
MIRT994556	hsa-miR-485-5p	CLIP-seq
MIRT994557	hsa-miR-486-5p	CLIP-seq
MIRT2229017	hsa-miR-497	CLIP-seq
MIRT1994920	hsa-miR-508-5p	CLIP-seq
MIRT1994921	hsa-miR-520a-5p	CLIP-seq
MIRT1994922	hsa-miR-525-5p	CLIP-seq
MIRT2229018	hsa-miR-556-3p	CLIP-seq
MIRT2229019	hsa-miR-561	CLIP-seq
MIRT2229020	hsa-miR-562	CLIP-seq
MIRT994496	hsa-miR-575	CLIP-seq
MIRT2229021	hsa-miR-622	CLIP-seq
MIRT2229022	hsa-miR-631	CLIP-seq
MIRT1994924	hsa-miR-635	CLIP-seq
MIRT2229023	hsa-miR-638	CLIP-seq
MIRT994568	hsa-miR-650	CLIP-seq
MIRT994498	hsa-miR-661	CLIP-seq
MIRT994499	hsa-miR-665	CLIP-seq
MIRT2229024	hsa-miR-668	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT2229025	hsa-miR-769-3p	CLIP-seq
MIRT994570	hsa-miR-890	CLIP-seq
MIRT2229026	hsa-miR-892a	CLIP-seq
MIRT2229027	hsa-miR-934	CLIP-seq
MIRT994504	hsa-miR-1225-3p	CLIP-seq
MIRT994505	hsa-miR-1233	CLIP-seq
MIRT1994901	hsa-miR-124	CLIP-seq
MIRT2228991	hsa-miR-3153	CLIP-seq
MIRT2228992	hsa-miR-3162-5p	CLIP-seq
MIRT1994907	hsa-miR-3177-3p	CLIP-seq
MIRT1994910	hsa-miR-3622a-5p	CLIP-seq
MIRT2387963	hsa-miR-3714	CLIP-seq
MIRT994529	hsa-miR-3910	CLIP-seq
MIRT994534	hsa-miR-432	CLIP-seq
MIRT2387964	hsa-miR-4659a-5p	CLIP-seq
MIRT2387965	hsa-miR-4659b-5p	CLIP-seq
MIRT2387966	hsa-miR-4769-3p	CLIP-seq
MIRT1994919	hsa-miR-506	CLIP-seq
MIRT1994923	hsa-miR-564	CLIP-seq
MIRT994499	hsa-miR-665	CLIP-seq
MIRT994570	hsa-miR-890	CLIP-seq
MIRT2428873	hsa-miR-3137	CLIP-seq
MIRT1994911	hsa-miR-3686	CLIP-seq
MIRT2428874	hsa-miR-4652-3p	CLIP-seq
MIRT2229019	hsa-miR-561	CLIP-seq
MIRT994457	hsa-miR-1262	CLIP-seq
MIRT2449608	hsa-miR-1289	CLIP-seq
MIRT1994904	hsa-miR-3145-5p	CLIP-seq
MIRT2449609	hsa-miR-3198	CLIP-seq
MIRT2449610	hsa-miR-3613-3p	CLIP-seq
MIRT2449611	hsa-miR-371-5p	CLIP-seq
MIRT2449612	hsa-miR-371b-5p	CLIP-seq
MIRT1994912	hsa-miR-4252	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT2449613	hsa-miR-4282	CLIP-seq
MIRT994480	hsa-miR-4290	CLIP-seq
MIRT2449614	hsa-miR-4294	CLIP-seq
MIRT2449615	hsa-miR-4309	CLIP-seq
MIRT2449616	hsa-miR-4428	CLIP-seq
MIRT994538	hsa-miR-4432	CLIP-seq
MIRT1994915	hsa-miR-4453	CLIP-seq
MIRT2449617	hsa-miR-4477b	CLIP-seq
MIRT2449618	hsa-miR-451b	CLIP-seq
MIRT1994916	hsa-miR-4538	CLIP-seq
MIRT2449619	hsa-miR-4696	CLIP-seq
MIRT994489	hsa-miR-4701-3p	CLIP-seq
MIRT2449620	hsa-miR-4802-3p	CLIP-seq
MIRT1994920	hsa-miR-508-5p	CLIP-seq
MIRT1994924	hsa-miR-635	CLIP-seq
MIRT994498	hsa-miR-661	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT2449608	hsa-miR-1289	CLIP-seq
MIRT2465289	hsa-miR-29a	CLIP-seq
MIRT2465290	hsa-miR-29b	CLIP-seq
MIRT2465291	hsa-miR-29c	CLIP-seq
MIRT2465292	hsa-miR-3065-3p	CLIP-seq
MIRT2449609	hsa-miR-3198	CLIP-seq
MIRT2228995	hsa-miR-338-3p	CLIP-seq
MIRT2465293	hsa-miR-3667-3p	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT2449614	hsa-miR-4294	CLIP-seq
MIRT2449615	hsa-miR-4309	CLIP-seq
MIRT2449616	hsa-miR-4428	CLIP-seq
MIRT2229011	hsa-miR-4530	CLIP-seq
MIRT2449620	hsa-miR-4802-3p	CLIP-seq
MIRT2228982	hsa-miR-101	CLIP-seq
MIRT2532581	hsa-miR-105	CLIP-seq
MIRT1994899	hsa-miR-1179	CLIP-seq
MIRT2532582	hsa-miR-1183	CLIP-seq
MIRT994453	hsa-miR-122	CLIP-seq
MIRT994454	hsa-miR-1228	CLIP-seq
MIRT994455	hsa-miR-1229	CLIP-seq
MIRT994456	hsa-miR-1254	CLIP-seq
MIRT2228983	hsa-miR-1273d	CLIP-seq
MIRT2228984	hsa-miR-1278	CLIP-seq
MIRT2449608	hsa-miR-1289	CLIP-seq
MIRT994510	hsa-miR-1324	CLIP-seq
MIRT2532583	hsa-miR-1972	CLIP-seq
MIRT2532584	hsa-miR-23a	CLIP-seq
MIRT2532585	hsa-miR-23b	CLIP-seq
MIRT2532586	hsa-miR-23c	CLIP-seq
MIRT2532587	hsa-miR-302a	CLIP-seq
MIRT2532588	hsa-miR-302b	CLIP-seq
MIRT2532589	hsa-miR-302c	CLIP-seq
MIRT2532590	hsa-miR-302d	CLIP-seq
MIRT2532591	hsa-miR-302e	CLIP-seq
MIRT2532592	hsa-miR-3074-5p	CLIP-seq
MIRT994464	hsa-miR-3116	CLIP-seq
MIRT2532593	hsa-miR-3121-3p	CLIP-seq
MIRT1994903	hsa-miR-3128	CLIP-seq
MIRT994466	hsa-miR-3135b	CLIP-seq
MIRT2532594	hsa-miR-3144-3p	CLIP-seq
MIRT1994904	hsa-miR-3145-5p	CLIP-seq
MIRT1994905	hsa-miR-3152-5p	CLIP-seq
MIRT2228991	hsa-miR-3153	CLIP-seq
MIRT2228992	hsa-miR-3162-5p	CLIP-seq
MIRT2228993	hsa-miR-3163	CLIP-seq
MIRT1994908	hsa-miR-3180-5p	CLIP-seq
MIRT2532595	hsa-miR-3189-5p	CLIP-seq
MIRT2449609	hsa-miR-3198	CLIP-seq
MIRT994524	hsa-miR-335	CLIP-seq
MIRT1994909	hsa-miR-3607-3p	CLIP-seq
MIRT2449610	hsa-miR-3613-3p	CLIP-seq
MIRT2532596	hsa-miR-3622b-5p	CLIP-seq
MIRT994470	hsa-miR-3652	CLIP-seq
MIRT2228999	hsa-miR-3663-5p	CLIP-seq
MIRT2532597	hsa-miR-3665	CLIP-seq
MIRT2532598	hsa-miR-3675-3p	CLIP-seq
MIRT1994911	hsa-miR-3686	CLIP-seq
MIRT994475	hsa-miR-3690	CLIP-seq
MIRT2449612	hsa-miR-371b-5p	CLIP-seq
MIRT2532599	hsa-miR-372	CLIP-seq
MIRT2532600	hsa-miR-373	CLIP-seq
MIRT2532601	hsa-miR-377	CLIP-seq
MIRT2532602	hsa-miR-3920	CLIP-seq
MIRT2532603	hsa-miR-3942-3p	CLIP-seq
MIRT2532604	hsa-miR-3977	CLIP-seq
MIRT2532605	hsa-miR-410	CLIP-seq
MIRT1994912	hsa-miR-4252	CLIP-seq
MIRT2532606	hsa-miR-4253	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT2532607	hsa-miR-4268	CLIP-seq
MIRT994479	hsa-miR-4277	CLIP-seq
MIRT2229003	hsa-miR-4281	CLIP-seq
MIRT2449613	hsa-miR-4282	CLIP-seq
MIRT2449614	hsa-miR-4294	CLIP-seq
MIRT2449615	hsa-miR-4309	CLIP-seq
MIRT2532608	hsa-miR-4328	CLIP-seq
MIRT2449616	hsa-miR-4428	CLIP-seq
MIRT994481	hsa-miR-4430	CLIP-seq
MIRT1994915	hsa-miR-4453	CLIP-seq
MIRT2532609	hsa-miR-4470	CLIP-seq
MIRT2449617	hsa-miR-4477b	CLIP-seq
MIRT994485	hsa-miR-4502	CLIP-seq
MIRT1994916	hsa-miR-4538	CLIP-seq
MIRT994486	hsa-miR-4638-3p	CLIP-seq
MIRT2532610	hsa-miR-4650-5p	CLIP-seq
MIRT994488	hsa-miR-4676-5p	CLIP-seq
MIRT1994917	hsa-miR-4684-5p	CLIP-seq
MIRT2229012	hsa-miR-4693-5p	CLIP-seq
MIRT994491	hsa-miR-4705	CLIP-seq
MIRT2532611	hsa-miR-4719	CLIP-seq
MIRT2228981	hsa-miR-4742-3p	CLIP-seq
MIRT2532612	hsa-miR-4757-5p	CLIP-seq
MIRT2532613	hsa-miR-4760-5p	CLIP-seq
MIRT2532614	hsa-miR-4762-3p	CLIP-seq
MIRT2532615	hsa-miR-4766-3p	CLIP-seq
MIRT1994918	hsa-miR-4778-5p	CLIP-seq
MIRT2532616	hsa-miR-4790-3p	CLIP-seq
MIRT2229016	hsa-miR-4797-3p	CLIP-seq
MIRT2449620	hsa-miR-4802-3p	CLIP-seq
MIRT994557	hsa-miR-486-5p	CLIP-seq
MIRT1994920	hsa-miR-508-5p	CLIP-seq
MIRT2532617	hsa-miR-519a	CLIP-seq
MIRT2532618	hsa-miR-519b-3p	CLIP-seq
MIRT2532619	hsa-miR-519c-3p	CLIP-seq
MIRT2532620	hsa-miR-520a-3p	CLIP-seq
MIRT1994921	hsa-miR-520a-5p	CLIP-seq
MIRT2532621	hsa-miR-520b	CLIP-seq
MIRT2532622	hsa-miR-520c-3p	CLIP-seq
MIRT2532623	hsa-miR-520d-3p	CLIP-seq
MIRT2532624	hsa-miR-520e	CLIP-seq
MIRT2532625	hsa-miR-520f	CLIP-seq
MIRT1994922	hsa-miR-525-5p	CLIP-seq
MIRT994562	hsa-miR-548c-3p	CLIP-seq
MIRT2532626	hsa-miR-548p	CLIP-seq
MIRT994496	hsa-miR-575	CLIP-seq
MIRT2229021	hsa-miR-622	CLIP-seq
MIRT1994924	hsa-miR-635	CLIP-seq
MIRT2532627	hsa-miR-657	CLIP-seq
MIRT2229024	hsa-miR-668	CLIP-seq
MIRT2532628	hsa-miR-720	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT2532629	hsa-miR-875-5p	CLIP-seq
MIRT2228982	hsa-miR-101	CLIP-seq
MIRT2532581	hsa-miR-105	CLIP-seq
MIRT1994899	hsa-miR-1179	CLIP-seq
MIRT994453	hsa-miR-122	CLIP-seq
MIRT2680944	hsa-miR-1224-3p	CLIP-seq
MIRT994454	hsa-miR-1228	CLIP-seq
MIRT1994901	hsa-miR-124	CLIP-seq
MIRT2680945	hsa-miR-1260	CLIP-seq
MIRT2680946	hsa-miR-1260b	CLIP-seq
MIRT2228984	hsa-miR-1278	CLIP-seq
MIRT2680947	hsa-miR-1280	CLIP-seq
MIRT2449608	hsa-miR-1289	CLIP-seq
MIRT994510	hsa-miR-1324	CLIP-seq
MIRT2680948	hsa-miR-141	CLIP-seq
MIRT2532583	hsa-miR-1972	CLIP-seq
MIRT2680949	hsa-miR-200a	CLIP-seq
MIRT2532584	hsa-miR-23a	CLIP-seq
MIRT2532585	hsa-miR-23b	CLIP-seq
MIRT2532586	hsa-miR-23c	CLIP-seq
MIRT2680950	hsa-miR-2681	CLIP-seq
MIRT2532592	hsa-miR-3074-5p	CLIP-seq
MIRT2532593	hsa-miR-3121-3p	CLIP-seq
MIRT1994903	hsa-miR-3128	CLIP-seq
MIRT994466	hsa-miR-3135b	CLIP-seq
MIRT2532594	hsa-miR-3144-3p	CLIP-seq
MIRT1994904	hsa-miR-3145-5p	CLIP-seq
MIRT1994905	hsa-miR-3152-5p	CLIP-seq
MIRT2228993	hsa-miR-3163	CLIP-seq
MIRT1994908	hsa-miR-3180-5p	CLIP-seq
MIRT2532595	hsa-miR-3189-5p	CLIP-seq
MIRT2449609	hsa-miR-3198	CLIP-seq
MIRT994524	hsa-miR-335	CLIP-seq
MIRT1994910	hsa-miR-3622a-5p	CLIP-seq
MIRT2532596	hsa-miR-3622b-5p	CLIP-seq
MIRT994470	hsa-miR-3652	CLIP-seq
MIRT2228999	hsa-miR-3663-5p	CLIP-seq
MIRT2532597	hsa-miR-3665	CLIP-seq
MIRT2532598	hsa-miR-3675-3p	CLIP-seq
MIRT2532601	hsa-miR-377	CLIP-seq
MIRT2532602	hsa-miR-3920	CLIP-seq
MIRT2532605	hsa-miR-410	CLIP-seq
MIRT1994912	hsa-miR-4252	CLIP-seq
MIRT2532606	hsa-miR-4253	CLIP-seq
MIRT1994913	hsa-miR-4267	CLIP-seq
MIRT2532607	hsa-miR-4268	CLIP-seq
MIRT2229003	hsa-miR-4281	CLIP-seq
MIRT2449614	hsa-miR-4294	CLIP-seq
MIRT2449615	hsa-miR-4309	CLIP-seq
MIRT2449616	hsa-miR-4428	CLIP-seq
MIRT994481	hsa-miR-4430	CLIP-seq
MIRT1994915	hsa-miR-4453	CLIP-seq
MIRT2532609	hsa-miR-4470	CLIP-seq
MIRT1994916	hsa-miR-4538	CLIP-seq
MIRT2532610	hsa-miR-4650-5p	CLIP-seq
MIRT994488	hsa-miR-4676-5p	CLIP-seq
MIRT1994917	hsa-miR-4684-5p	CLIP-seq
MIRT994491	hsa-miR-4705	CLIP-seq
MIRT2532611	hsa-miR-4719	CLIP-seq
MIRT2228981	hsa-miR-4742-3p	CLIP-seq
MIRT2532612	hsa-miR-4757-5p	CLIP-seq
MIRT2532614	hsa-miR-4762-3p	CLIP-seq
MIRT2532616	hsa-miR-4790-3p	CLIP-seq
MIRT2229016	hsa-miR-4797-3p	CLIP-seq
MIRT2449620	hsa-miR-4802-3p	CLIP-seq
MIRT994557	hsa-miR-486-5p	CLIP-seq
MIRT1994919	hsa-miR-506	CLIP-seq
MIRT1994920	hsa-miR-508-5p	CLIP-seq
MIRT1994921	hsa-miR-520a-5p	CLIP-seq
MIRT1994922	hsa-miR-525-5p	CLIP-seq
MIRT994562	hsa-miR-548c-3p	CLIP-seq
MIRT994496	hsa-miR-575	CLIP-seq
MIRT2229021	hsa-miR-622	CLIP-seq
MIRT1994924	hsa-miR-635	CLIP-seq
MIRT2532627	hsa-miR-657	CLIP-seq
MIRT2229024	hsa-miR-668	CLIP-seq
MIRT2532628	hsa-miR-720	CLIP-seq
MIRT994500	hsa-miR-766	CLIP-seq
MIRT2532629	hsa-miR-875-5p	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004325	Function	Ferrochelatase activity	IBA
GO:0004325	Function	Ferrochelatase activity	IDA	8973195, 15123683, 27599036
GO:0004325	Function	Ferrochelatase activity	IEA
GO:0004325	Function	Ferrochelatase activity	TAS	2260980
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	15123683, 27599036, 30765471, 33961781, 36836934
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	1729699
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IDA	15123683, 27599036
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS	1729699
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IDA	27599036
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0008198	Function	Ferrous iron binding	TAS	1729699
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009416	Process	Response to light stimulus	TAS	1376018
GO:0009589	Process	Detection of UV	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0017085	Process	Response to insecticide	IEA
GO:0020037	Function	Heme binding	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030350	Function	Iron-responsive element binding	IEA
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IEA
GO:0042802	Function	Identical protein binding	IPI	17261801, 30765471
GO:0042803	Function	Protein homodimerization activity	IDA	30765471
GO:0045471	Process	Response to ethanol	IEA
GO:0046501	Process	Protoporphyrinogen IX metabolic process	IDA	15123683
GO:0046501	Process	Protoporphyrinogen IX metabolic process	IEA
GO:0046501	Process	Protoporphyrinogen IX metabolic process	IEA
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046906	Function	Tetrapyrrole binding	IEA
GO:0046984	Process	Regulation of hemoglobin biosynthetic process	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0051597	Process	Response to methylmercury	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0070541	Process	Response to platinum ion	IEA
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA

MIM	HGNC	e!Ensembl
612386	3647	ENSG00000066926

P22830

Protein name

Ferrochelatase, mitochondrial (EC 4.98.1.1) (Heme synthase) (Protoheme ferro-lyase)

Protein function

Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway.

PDB

1HRK , 2HRC , 2HRE , 2PNJ , 2PO5 , 2PO7 , 2QD1 , 2QD2 , 2QD3 , 2QD4 , 2QD5 , 3AQI , 3HCN , 3HCO , 3HCP , 3HCR , 3W1W , 4F4D , 4KLA , 4KLC , 4KLR , 4KMM , 4MK4 , 7CT7 , 7CTC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00762	Ferrochelatase	68 → 389	Ferrochelatase	Domain

Sequence

MRSLGANMAAALRAAGVLLRDPLASSSWRVCQPWRWKSGAAAAAVTTETAQHAQGAKPQV
QPQKRKPKTGILMLNMGGPETLGDVHDFLLRLFLDRDLMTLPIQNKLAPFIAKRRTPKIQ
EQYRRIGGGSPIKIWTSKQGEGMVKLLDELSPNTAPHKYYIGFRYVHPLTEEAIEEMERD
GLERAIAFTQYPQYSCSTTGSSLNAIYRYYNQVGRKPTMKWSTIDRWPTHHLLIQCFADH
ILKELDHFPLEKRSEVVILFSAHSLPMSVVNRGDPYPQEVSATVQKVMERLEYCNPYRLV
WQSKVGPMPWLGPQTDESIKGLCERGRKNILLVPIAFTSDHIETLYELDIEYSQVLAKEC
GVENIRRAESLNGNPLFSKALADLVHSHIQSNELCSKQLTLSCPLCVNPVCRETKSFFTS
QQL

Sequence length

423

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal erythropoietic protoporphyria	Pathogenic; Likely pathogenic	rs2511517215, rs2051380165	RCV003224833 RCV001195535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FECH-related disorder	Pathogenic; Likely pathogenic	rs1430926156, rs764466739, rs1223818578, rs2511539097	RCV003399198 RCV004754228 RCV004755002 RCV003911502	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Protoporphyria, erythropoietic, 1	Pathogenic; Likely pathogenic	rs1430926156, rs2122357230, rs984041251, rs1324421474, rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs1171981319 View all (9 more)	RCV003234795 RCV001542796 RCV001783269 RCV002074436 RCV000000581 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

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 myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILE DUCT DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythema	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROPOIETIC PROTOPORPHYRIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jaundice	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORPHYRIA, ERYTHROPOIETIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTOPORPHYRIA, ERYTHROPOIETIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (78)

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	19965627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	12699245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	8105866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30445362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28377496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23135403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal erythropoietic protoporphyria	Erythropoietic Protoporphyria	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bile Duct Diseases	Bile Duct Diseases	CTD_human_DG	10464147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Neoplasms	Brain Neoplasms	BEFREE	26329494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10507316, 22471470, 30767226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30767226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17875605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30445362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestatic liver disease	Cholestatic liver disease	BEFREE	16150949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	16150949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	10464147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	34581821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17875605, 28075030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22349098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Porphyrin Metabolism	Porphyria	BEFREE	12699245, 16882191, 26280465, 6804493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26789144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30582757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	BEFREE	10068685, 10395321, 10417624, 10431482, 10942404, 10985389, 11039124, 11753383, 11886517, 11929052, 11929053, 11980567, 12063482, 12207604, 12601550 View all (102 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	CTD_human_DG	10464147, 12950064, 15284838, 15793285, 17600043, 29906468		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	LHGDN	11929052, 11929053, 15286165, 16385445, 17196862, 17723290, 18160121, 18787536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ferrochelatase deficiency	Ferrochelatase Deficiency	CTD_human_DG	10464147, 12950064, 15284838, 15793285, 17600043, 29906468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21304523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21304523	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21304523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21304523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21304523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28377496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	17711525, 28026050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	30094461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	19656459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	19350426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	29116687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	10942404, 19350426, 8500787, 9883431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	10942404, 30809087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10507316, 22471470, 30767226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30582757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28379896, 31295943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17875605, 28075030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30445362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	16882191		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16150949, 16882191, 28026050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11886534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	12063482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	16150949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19965627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15312748, 22349098, 28075030, 30767226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	34686726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Cutanea Tarda	Porphyria Cutanea Tarda	BEFREE	12699245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria Erythropoietic	Porphyria	Pubtator	11886534	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	BEFREE	10582332, 30454868		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyria, Erythropoietic	Congenital erythropoietic porphyria	LHGDN	15046047		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porphyrias, Hepatic	Hepatic porphyria	LHGDN	14669009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28379896, 31295943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31295943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	10068685, 10417624, 10942404, 11886517, 11886534, 1376018, 15831704, 15850836, 1729699, 19693296, 20412370, 22766189, 23364466, 24680888, 26789144 View all (21 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	16150949, 33275677, 36898083	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
PROTOPORPHYRIA, ERYTHROPOIETIC, 1	Protoporphyria, Erythropoietic	UNIPROT_DG	10942404, 11375302, 12063482, 12601550, 1376018, 15286165, 17196862, 1755842, 7910885, 8757534, 9211198, 9585598, 9740232		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTOPORPHYRIA, ERYTHROPOIETIC, 1	Protoporphyria, Erythropoietic	CLINVAR_DG	16385445, 18787536, 19298273, 23364466, 28093505		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROTOPORPHYRIA, ERYTHROPOIETIC, 1	Protoporphyria, Erythropoietic	GENOMICS_ENGLAND_DG	27604308, 28614581, 9649563		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pruritus	Pruritus	Pubtator	26789144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	19350426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	38316340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30175727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	12699245, 8673113, 871431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	34861826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15312748		★★★★★ ★☆☆☆☆ Found in Text Mining only

FECH (ferrochelatase)