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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5160
Gene name	Pyruvate dehydrogenase E1 subunit alpha 1
Gene symbol	PDHA1
Synonyms (NCBI Gene)	E1alphaPDHAPDHADPDHCE1APHE1A
Chromosome	X
Chromosome location	Xp22.12
Summary	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cy

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2229137	A>C	Pathogenic, benign	Coding sequence variant, missense variant
rs121917898	A>C	Pathogenic	Coding sequence variant, missense variant
rs137853251	AGA>-,AGAAAGA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion
rs137853252	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853253	A>C	Pathogenic	Coding sequence variant, missense variant
rs137853254	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs137853255	T>A	Pathogenic	Coding sequence variant, missense variant
rs137853256	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853257	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853258	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853259	C>G	Pathogenic	Coding sequence variant, missense variant
rs138727886	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141862527	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs398123300	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs606231185	AGTAAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231188	->TAGTTACCGTACACGAGAAGA	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs606231190	->T	Pathogenic	Frameshift variant, coding sequence variant
rs757654963	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727621	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794729213	G>A	Pathogenic	Missense variant, coding sequence variant
rs863224145	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs863224148	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs863224149	G>A	Pathogenic	Synonymous variant, splice acceptor variant, coding sequence variant
rs863224150	C>T	Pathogenic	Missense variant, coding sequence variant
rs863224153	TAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224155	GTACAGTCACTTGTTCATGGTGGTTTG>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs863224157	->CTTGCCAGTGTGGA	Pathogenic	Frameshift variant, coding sequence variant
rs886039690	G>T	Pathogenic	Splice acceptor variant
rs886041793	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886042089	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518173	->TCAGGAAGTAAG	Pathogenic	Coding sequence variant, inframe insertion
rs1057518702	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1057521993	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523018	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793225	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794149	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131691792	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692230	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1157736285	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1272572107	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555933643	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933663	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933954	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555933963	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555934165	T>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1555934376	A>C	Pathogenic	Missense variant, coding sequence variant
rs1555934379	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs1555934383	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555934843	G>A	Pathogenic	Splice acceptor variant
rs1555934859	->TTAC	Pathogenic	Frameshift variant, coding sequence variant
rs1555935197	A>G	Pathogenic	Splice acceptor variant
rs1555935216	TAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555935223	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555935473	->AGAT	Pathogenic	Frameshift variant, coding sequence variant
rs1569189834	G>A	Pathogenic	Splice acceptor variant
rs1569190079	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569190422	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569190962	A>G	Pathogenic	Coding sequence variant, missense variant
rs1569191372	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1569191659	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1569191879	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569194036	GAGGAAGGAGATTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602227631	->AGCCAGCACTGATTACTACAAGAGAGGC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602227643	->TACT	Pathogenic	Coding sequence variant, frameshift variant
rs1602227679	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602228017	->ATCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1602231539	->AGTAAGAGTGACCCTATTATGCTTCTCAAGGACAGGATGGTGAACAGCAATCTTGCCAG	Pathogenic	Coding sequence variant, inframe indel, stop gained

284

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030647	hsa-miR-22-3p	Sequencing	20371350
MIRT045791	hsa-miR-191-5p	CLASH	23622248
MIRT043636	hsa-miR-326	CLASH	23622248
MIRT038319	hsa-miR-130b-5p	CLASH	23622248
MIRT037151	hsa-miR-877-3p	CLASH	23622248
MIRT443198	hsa-miR-320e	PAR-CLIP	22100165
MIRT443196	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT443195	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT443194	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT443193	hsa-miR-3148	PAR-CLIP	22100165
MIRT443192	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT443191	hsa-miR-3153	PAR-CLIP	22100165
MIRT443190	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT443188	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT443189	hsa-miR-498	PAR-CLIP	22100165
MIRT443198	hsa-miR-320e	PAR-CLIP	22100165
MIRT443196	hsa-miR-4761-5p	PAR-CLIP	22100165
MIRT443195	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT443194	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT443193	hsa-miR-3148	PAR-CLIP	22100165
MIRT443192	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT443191	hsa-miR-3153	PAR-CLIP	22100165
MIRT443190	hsa-miR-6733-5p	PAR-CLIP	22100165
MIRT443188	hsa-miR-6739-5p	PAR-CLIP	22100165
MIRT443189	hsa-miR-498	PAR-CLIP	22100165
MIRT1221284	hsa-miR-1225-3p	CLIP-seq
MIRT1221285	hsa-miR-1228	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221287	hsa-miR-1233	CLIP-seq
MIRT1221288	hsa-miR-1273e	CLIP-seq
MIRT1221289	hsa-miR-1285	CLIP-seq
MIRT1221290	hsa-miR-1323	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT1221295	hsa-miR-217	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221298	hsa-miR-3187-5p	CLIP-seq
MIRT1221299	hsa-miR-329	CLIP-seq
MIRT1221300	hsa-miR-362-3p	CLIP-seq
MIRT1221301	hsa-miR-3689a-3p	CLIP-seq
MIRT1221302	hsa-miR-3689c	CLIP-seq
MIRT1221303	hsa-miR-3689d	CLIP-seq
MIRT1221304	hsa-miR-371b-5p	CLIP-seq
MIRT1221305	hsa-miR-3911	CLIP-seq
MIRT1221306	hsa-miR-3941	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT1221308	hsa-miR-4275	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT1221312	hsa-miR-4459	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT1221317	hsa-miR-4728-5p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221319	hsa-miR-4793-3p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221321	hsa-miR-508-5p	CLIP-seq
MIRT1221322	hsa-miR-548o	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221325	hsa-miR-603	CLIP-seq
MIRT1221326	hsa-miR-612	CLIP-seq
MIRT1221327	hsa-miR-629	CLIP-seq
MIRT1221328	hsa-miR-661	CLIP-seq
MIRT1221329	hsa-miR-665	CLIP-seq
MIRT1221330	hsa-miR-766	CLIP-seq
MIRT1221331	hsa-miR-767-3p	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT1221333	hsa-miR-1294	CLIP-seq
MIRT1221334	hsa-miR-296-5p	CLIP-seq
MIRT1221335	hsa-miR-3184	CLIP-seq
MIRT1221336	hsa-miR-3688-5p	CLIP-seq
MIRT1221337	hsa-miR-423-5p	CLIP-seq
MIRT1221338	hsa-miR-4258	CLIP-seq
MIRT1221339	hsa-miR-4316	CLIP-seq
MIRT1221340	hsa-miR-4677-3p	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT1221341	hsa-miR-224	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221342	hsa-miR-3150a-5p	CLIP-seq
MIRT1221343	hsa-miR-3150b-5p	CLIP-seq
MIRT1221344	hsa-miR-3613-3p	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT1221345	hsa-miR-4503	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT1221346	hsa-miR-4760-3p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT2292331	hsa-miR-1	CLIP-seq
MIRT2292332	hsa-miR-1205	CLIP-seq
MIRT2292333	hsa-miR-1207-5p	CLIP-seq
MIRT1221284	hsa-miR-1225-3p	CLIP-seq
MIRT1221285	hsa-miR-1228	CLIP-seq
MIRT1221286	hsa-miR-1231	CLIP-seq
MIRT1221287	hsa-miR-1233	CLIP-seq
MIRT2292334	hsa-miR-1237	CLIP-seq
MIRT2292335	hsa-miR-1248	CLIP-seq
MIRT1221288	hsa-miR-1273e	CLIP-seq
MIRT1221289	hsa-miR-1285	CLIP-seq
MIRT2292336	hsa-miR-1286	CLIP-seq
MIRT2292337	hsa-miR-1293	CLIP-seq
MIRT1221291	hsa-miR-141	CLIP-seq
MIRT1221292	hsa-miR-146a	CLIP-seq
MIRT1221293	hsa-miR-146b-5p	CLIP-seq
MIRT2292338	hsa-miR-150	CLIP-seq
MIRT2292339	hsa-miR-155	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292341	hsa-miR-1909	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2292343	hsa-miR-1976	CLIP-seq
MIRT1221294	hsa-miR-200a	CLIP-seq
MIRT2292344	hsa-miR-206	CLIP-seq
MIRT2292345	hsa-miR-2114	CLIP-seq
MIRT1221295	hsa-miR-217	CLIP-seq
MIRT2292346	hsa-miR-300	CLIP-seq
MIRT2292347	hsa-miR-31	CLIP-seq
MIRT1221296	hsa-miR-3120-5p	CLIP-seq
MIRT1221297	hsa-miR-3136-5p	CLIP-seq
MIRT1221342	hsa-miR-3150a-5p	CLIP-seq
MIRT1221343	hsa-miR-3150b-5p	CLIP-seq
MIRT1221298	hsa-miR-3187-5p	CLIP-seq
MIRT1221299	hsa-miR-329	CLIP-seq
MIRT2292348	hsa-miR-3612	CLIP-seq
MIRT2292349	hsa-miR-3614-5p	CLIP-seq
MIRT1221300	hsa-miR-362-3p	CLIP-seq
MIRT2292350	hsa-miR-3652	CLIP-seq
MIRT2292351	hsa-miR-3665	CLIP-seq
MIRT2292352	hsa-miR-3669	CLIP-seq
MIRT2292353	hsa-miR-3673	CLIP-seq
MIRT1221301	hsa-miR-3689a-3p	CLIP-seq
MIRT1221302	hsa-miR-3689c	CLIP-seq
MIRT1221303	hsa-miR-3689d	CLIP-seq
MIRT2292354	hsa-miR-381	CLIP-seq
MIRT2292355	hsa-miR-3929	CLIP-seq
MIRT1221306	hsa-miR-3941	CLIP-seq
MIRT1221307	hsa-miR-3943	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292357	hsa-miR-4261	CLIP-seq
MIRT1221308	hsa-miR-4275	CLIP-seq
MIRT2292358	hsa-miR-4279	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT1221309	hsa-miR-4313	CLIP-seq
MIRT1221310	hsa-miR-4323	CLIP-seq
MIRT2292360	hsa-miR-4419b	CLIP-seq
MIRT2292361	hsa-miR-4430	CLIP-seq
MIRT1221311	hsa-miR-4439	CLIP-seq
MIRT2292362	hsa-miR-4443	CLIP-seq
MIRT2292363	hsa-miR-4452	CLIP-seq
MIRT1221312	hsa-miR-4459	CLIP-seq
MIRT2292364	hsa-miR-4464	CLIP-seq
MIRT2292365	hsa-miR-4478	CLIP-seq
MIRT2292366	hsa-miR-4483	CLIP-seq
MIRT2292367	hsa-miR-4488	CLIP-seq
MIRT1221313	hsa-miR-4490	CLIP-seq
MIRT2292368	hsa-miR-4496	CLIP-seq
MIRT2292369	hsa-miR-4501	CLIP-seq
MIRT1221345	hsa-miR-4503	CLIP-seq
MIRT2292370	hsa-miR-4505	CLIP-seq
MIRT2292371	hsa-miR-4521	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT1221314	hsa-miR-4659a-3p	CLIP-seq
MIRT1221315	hsa-miR-4659b-3p	CLIP-seq
MIRT1221316	hsa-miR-4691-5p	CLIP-seq
MIRT2292373	hsa-miR-4695-5p	CLIP-seq
MIRT2292374	hsa-miR-4697-5p	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2292376	hsa-miR-4717-3p	CLIP-seq
MIRT2292377	hsa-miR-4722-3p	CLIP-seq
MIRT2292378	hsa-miR-4722-5p	CLIP-seq
MIRT1221317	hsa-miR-4728-5p	CLIP-seq
MIRT2292379	hsa-miR-4731-5p	CLIP-seq
MIRT2292380	hsa-miR-4748	CLIP-seq
MIRT1221346	hsa-miR-4760-3p	CLIP-seq
MIRT2292381	hsa-miR-4763-3p	CLIP-seq
MIRT2292382	hsa-miR-4763-5p	CLIP-seq
MIRT1221318	hsa-miR-4774-5p	CLIP-seq
MIRT1221319	hsa-miR-4793-3p	CLIP-seq
MIRT2292383	hsa-miR-485-5p	CLIP-seq
MIRT2292384	hsa-miR-486-3p	CLIP-seq
MIRT1221320	hsa-miR-493	CLIP-seq
MIRT1221321	hsa-miR-508-5p	CLIP-seq
MIRT2292385	hsa-miR-539	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT1221323	hsa-miR-580	CLIP-seq
MIRT2292388	hsa-miR-582-3p	CLIP-seq
MIRT2292389	hsa-miR-584	CLIP-seq
MIRT1221324	hsa-miR-589	CLIP-seq
MIRT1221325	hsa-miR-603	CLIP-seq
MIRT1221326	hsa-miR-612	CLIP-seq
MIRT2292390	hsa-miR-613	CLIP-seq
MIRT1221327	hsa-miR-629	CLIP-seq
MIRT2292391	hsa-miR-637	CLIP-seq
MIRT2292392	hsa-miR-650	CLIP-seq
MIRT2292393	hsa-miR-657	CLIP-seq
MIRT1221328	hsa-miR-661	CLIP-seq
MIRT1221329	hsa-miR-665	CLIP-seq
MIRT1221330	hsa-miR-766	CLIP-seq
MIRT1221331	hsa-miR-767-3p	CLIP-seq
MIRT1221332	hsa-miR-943	CLIP-seq
MIRT2590450	hsa-miR-1279	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2590451	hsa-miR-192	CLIP-seq
MIRT2590452	hsa-miR-203	CLIP-seq
MIRT2590453	hsa-miR-2052	CLIP-seq
MIRT2590454	hsa-miR-215	CLIP-seq
MIRT2590455	hsa-miR-299-3p	CLIP-seq
MIRT2590456	hsa-miR-3123	CLIP-seq
MIRT2590457	hsa-miR-340	CLIP-seq
MIRT2590458	hsa-miR-3611	CLIP-seq
MIRT2590459	hsa-miR-376c	CLIP-seq
MIRT2590460	hsa-miR-3925-5p	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT2590461	hsa-miR-4491	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT2590462	hsa-miR-4657	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2590463	hsa-miR-4724-5p	CLIP-seq
MIRT2590464	hsa-miR-520d-5p	CLIP-seq
MIRT2590465	hsa-miR-524-5p	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2590466	hsa-miR-562	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT2590467	hsa-miR-570	CLIP-seq
MIRT2590468	hsa-miR-649	CLIP-seq
MIRT2590469	hsa-miR-663b	CLIP-seq
MIRT2590470	hsa-miR-892a	CLIP-seq
MIRT2590450	hsa-miR-1279	CLIP-seq
MIRT2292340	hsa-miR-190	CLIP-seq
MIRT2292342	hsa-miR-190b	CLIP-seq
MIRT2590451	hsa-miR-192	CLIP-seq
MIRT2590452	hsa-miR-203	CLIP-seq
MIRT2590453	hsa-miR-2052	CLIP-seq
MIRT2292345	hsa-miR-2114	CLIP-seq
MIRT2590454	hsa-miR-215	CLIP-seq
MIRT2590455	hsa-miR-299-3p	CLIP-seq
MIRT2590456	hsa-miR-3123	CLIP-seq
MIRT2590457	hsa-miR-340	CLIP-seq
MIRT2590458	hsa-miR-3611	CLIP-seq
MIRT2292349	hsa-miR-3614-5p	CLIP-seq
MIRT2292352	hsa-miR-3669	CLIP-seq
MIRT2590459	hsa-miR-376c	CLIP-seq
MIRT2590460	hsa-miR-3925-5p	CLIP-seq
MIRT2687485	hsa-miR-3936	CLIP-seq
MIRT2292356	hsa-miR-409-3p	CLIP-seq
MIRT2292359	hsa-miR-4312	CLIP-seq
MIRT2590461	hsa-miR-4491	CLIP-seq
MIRT2292368	hsa-miR-4496	CLIP-seq
MIRT2292372	hsa-miR-455-5p	CLIP-seq
MIRT2590462	hsa-miR-4657	CLIP-seq
MIRT2292375	hsa-miR-4703-3p	CLIP-seq
MIRT2590463	hsa-miR-4724-5p	CLIP-seq
MIRT2292383	hsa-miR-485-5p	CLIP-seq
MIRT2687486	hsa-miR-494	CLIP-seq
MIRT2687487	hsa-miR-495	CLIP-seq
MIRT2292386	hsa-miR-550a	CLIP-seq
MIRT2590466	hsa-miR-562	CLIP-seq
MIRT2292387	hsa-miR-569	CLIP-seq
MIRT2590467	hsa-miR-570	CLIP-seq
MIRT2590468	hsa-miR-649	CLIP-seq
MIRT2590469	hsa-miR-663b	CLIP-seq
MIRT2590470	hsa-miR-892a	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
FOS	Unknown	8476854
JUN	Unknown	8476854
SP1	Unknown	8476854

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IDA	19081061
GO:0004739	Function	Pyruvate dehydrogenase (acetyl-transferring) activity	IEA
GO:0005515	Function	Protein binding	IPI	7782287, 12651851, 19081061, 29128334, 29568061, 33961781, 35156780, 36012204
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	NAS	24534072
GO:0005739	Component	Mitochondrion	TAS	3034892
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IBA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IDA	19081061, 24534072
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006086	Process	Pyruvate decarboxylation to acetyl-CoA	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016624	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor	IEA
GO:0045254	Component	Pyruvate dehydrogenase complex	IDA	19081061
GO:0045254	Component	Pyruvate dehydrogenase complex	IPI	19240034
GO:0046872	Function	Metal ion binding	IEA
GO:1902494	Component	Catalytic complex	IEA

MIM	HGNC	e!Ensembl
300502	8806	ENSG00000131828

P08559

Protein name

Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (EC 1.2.4.1) (PDHE1-A type I)

Protein function

The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.

PDB

1NI4 , 2OZL , 3EXE , 3EXF , 3EXG , 3EXH , 3EXI , 6CER , 6CFO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00676	E1_dh	66 → 362	Dehydrogenase E1 component	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTRED
GLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRA
HGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALA
CKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST
DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS
YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS

Sequence length

390

Interactions

View interactions

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the mitochondrion	Likely pathogenic	rs863224148	RCV001814100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2063174067	RCV002274173	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2063213491	RCV005911081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PDHA1-related disorder	Pathogenic	rs137853252, rs137853258	RCV003407316 RCV004748515	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyruvate dehydrogenase complex deficiency	Likely pathogenic; Pathogenic	rs863224148, rs863224150, rs863224146, rs863224147, rs606231189, rs1555933963, rs1555935223, rs1555935486, rs1569190079	RCV001796727 RCV001526400 RCV001753598 RCV001796726 RCV001753411 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate dehydrogenase E1-alpha deficiency	Pathogenic; Likely pathogenic	rs2063213491, rs2147178249, rs137853259, rs2147180935, rs2147180839, rs2147176072, rs2147180742, rs2147189315, rs2147180851, rs2147184540, rs2147184502, rs2147168716, rs2147187199, rs2147188973, rs2147189334 View all (99 more)	RCV001329773 RCV001824174 RCV001638161 RCV001844384 RCV001706839 View all (116 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SUDDEN INFANT DEATH SYNDROME	Pathogenic	rs863224147	RCV001788065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs886039690, rs1555934379, rs1555934843, rs2063162114	RCV005895453 RCV005899803 RCV005900086 RCV005913639	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (134)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	23572181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	18197404, 35943828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37547319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	28495245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18504677, 20002125, 29756269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia with Lactic Acidosis, Type I	ATAXIA WITH LACTIC ACIDOSIS	CTD_human_DG	2378353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21723463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	38062233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal ganglia cysts	Basal ganglia cysts	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	29756269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18504677, 26014431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36312586, 36518756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28076853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38078880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36826087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34930316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	39920986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21723463	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	39920986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	30799092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30993888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	26014431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Lowry syndrome	Coffin-Lowry Syndrome	BEFREE	9467016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20591708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital lactic acidosis	Congenital lactic acidosis	BEFREE	20591708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	36466876	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109, 7887408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	15473177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	15473177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	36474131, 38062233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26354166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	31819487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	31819487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38159255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37866660	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36270342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	39920986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Injuries	Cardiac injury	Pubtator	36988255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35943828, 40603987	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	39920986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27231905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	23572181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37275904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	2378353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	20002125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	20002125, 33661577, 36675121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39300580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28564592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29444744, 30226812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	38062233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31819487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881, 29335542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27462778, 28076853, 29335542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30226598, 30611622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28076853, 30226598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	15347626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35943828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22473288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109, 7887408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10679936, 15384102, 21914562, 23021068, 25526709, 26008863, 26944031, 27144126, 27896109, 7887408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38018590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	19924563, 20002461, 21914562, 23840713, 28918066, 8498846, 8664900, 9187674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27462778, 29335542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36817415, 37809099	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36967449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28564592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	28495245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27462778, 28076853, 29335542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881, 29335542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27462778, 28076853, 37056926	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29335542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35145193	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	BEFREE	10679936, 14635113, 15473177, 17043409, 18197404, 18273899, 18709504, 19517265, 19924563, 20002461, 20462777, 20652410, 22473288, 23572181, 26354166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	ORPHANET_DG	10679936, 15384102, 20002461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	CLINVAR_DG	21914562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	2378353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal	Pyruvate Dehydrogenase Complex Deficiency Disease	CTD_human_DG	2378353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	ORPHANET_DG	10679936, 15384102, 20002461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	CLINVAR_DG	10679936, 10775534, 11102541, 11241048, 1293379, 1301207, 17043409, 1907799, 20002125, 20002461, 21846590, 21914562, 25590979, 26865159, 7887409, 9671272 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	10679936, 26865159, 27604308, 8771169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate Dehydrogenase E1 Alpha Deficiency	Pyruvate Dehydrogenase Deficiency	UNIPROT_DG	1293379, 1338114, 1551669, 1909401, 27864847, 7545958, 7573035, 7757088, 7887409, 7967473, 8032855, 8199595, 8498846, 8504306, 8664900, 8844217, 9266390, 9671272 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyruvate dehydrogenase E1-alpha deficiency	Pyruvate Dehydrogenase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate Metabolism, Inborn Errors	Pyruvate Metabolism, Inborn Errors	CTD_human_DG	2378353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23572181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36254059	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31819487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31100640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30226598, 30611622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	37505170	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	36817415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	22473288		★★★★★ ★☆☆☆☆ Found in Text Mining only

PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)