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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7915
Gene name	Aldehyde dehydrogenase 5 family member A1
Gene symbol	ALDH5A1
Synonyms (NCBI Gene)	SSADHSSDH
Chromosome	6
Chromosome location	6p22.3
Summary	This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the me

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72552281	G>A	Pathogenic	Coding sequence variant, missense variant
rs72552282	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs72552284	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs115784602	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs118203982	G>A	Pathogenic	Stop gained, coding sequence variant
rs118203983	C>T	Pathogenic	Stop gained, coding sequence variant
rs118203984	G>A	Pathogenic	Missense variant, coding sequence variant
rs142482046	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs144177566	G>A,C,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145208127	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147358733	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148188703	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs375628463	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, intron variant
rs755029414	->TTGCCCT	Pathogenic	Coding sequence variant, frameshift variant
rs778127154	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs875989801	GTA>TT	Pathogenic	Intron variant, splice donor variant
rs1301821497	A>G	Pathogenic	Splice acceptor variant
rs1306678453	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561872640	G>A	Pathogenic	Splice donor variant, intron variant
rs1561879345	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1561879380	G>A,T	Pathogenic	Splice donor variant
rs1581807379	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581815207	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1581819950	C>T	Likely-pathogenic	Stop gained, coding sequence variant

471

Show/Hide all (471)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020822	hsa-miR-155-5p	Proteomics	18668040
MIRT024624	hsa-miR-215-5p	Microarray	19074876
MIRT026627	hsa-miR-192-5p	Microarray	19074876
MIRT030518	hsa-miR-24-3p	Microarray	19748357
MIRT047973	hsa-miR-30c-5p	CLASH	23622248
MIRT054203	hsa-miR-210-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT054214	hsa-miR-147b	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	23028679
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717850	hsa-miR-5088-5p	HITS-CLIP	19536157
MIRT717849	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT717848	hsa-miR-1283	HITS-CLIP	19536157
MIRT717847	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT717846	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT717845	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT717844	hsa-miR-4437	HITS-CLIP	19536157
MIRT717843	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT717842	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT717841	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680050	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT680049	hsa-miR-3199	HITS-CLIP	23824327
MIRT680048	hsa-miR-8052	HITS-CLIP	23824327
MIRT680047	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT680046	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646569	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT646568	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT646567	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT646564	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT646563	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646560	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT646559	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717855	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT717854	hsa-miR-4520-5p	HITS-CLIP	19536157
MIRT717853	hsa-miR-4252	HITS-CLIP	19536157
MIRT717852	hsa-miR-4297	HITS-CLIP	19536157
MIRT717851	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717850	hsa-miR-5088-5p	HITS-CLIP	19536157
MIRT717849	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT717848	hsa-miR-1283	HITS-CLIP	19536157
MIRT717847	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT717846	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT717845	hsa-miR-6847-3p	HITS-CLIP	19536157
MIRT717844	hsa-miR-4437	HITS-CLIP	19536157
MIRT717843	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT717842	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT717841	hsa-miR-561-5p	HITS-CLIP	19536157
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT680050	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT680049	hsa-miR-3199	HITS-CLIP	23824327
MIRT680048	hsa-miR-8052	HITS-CLIP	23824327
MIRT680047	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT680046	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT646572	hsa-miR-122-3p	HITS-CLIP	23824327
MIRT646571	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT646570	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT646569	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT646568	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT646567	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT646566	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT646565	hsa-miR-1976	HITS-CLIP	23824327
MIRT646564	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT646563	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT646562	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT646561	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT646560	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT646559	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT646558	hsa-miR-4279	HITS-CLIP	23824327
MIRT777471	hsa-miR-103b	CLIP-seq
MIRT777472	hsa-miR-1272	CLIP-seq
MIRT777473	hsa-miR-129-5p	CLIP-seq
MIRT777474	hsa-miR-146a	CLIP-seq
MIRT777475	hsa-miR-146b-5p	CLIP-seq
MIRT777476	hsa-miR-204	CLIP-seq
MIRT777477	hsa-miR-210	CLIP-seq
MIRT777478	hsa-miR-211	CLIP-seq
MIRT777479	hsa-miR-2113	CLIP-seq
MIRT777480	hsa-miR-3074-5p	CLIP-seq
MIRT777481	hsa-miR-3119	CLIP-seq
MIRT777482	hsa-miR-3124-3p	CLIP-seq
MIRT777483	hsa-miR-3136-5p	CLIP-seq
MIRT777484	hsa-miR-3140-3p	CLIP-seq
MIRT777485	hsa-miR-3160-3p	CLIP-seq
MIRT777486	hsa-miR-3607-3p	CLIP-seq
MIRT777487	hsa-miR-370	CLIP-seq
MIRT777488	hsa-miR-3940-5p	CLIP-seq
MIRT777489	hsa-miR-4251	CLIP-seq
MIRT777490	hsa-miR-4275	CLIP-seq
MIRT777491	hsa-miR-4318	CLIP-seq
MIRT777492	hsa-miR-4439	CLIP-seq
MIRT777493	hsa-miR-4446-5p	CLIP-seq
MIRT777494	hsa-miR-4487	CLIP-seq
MIRT777495	hsa-miR-4507	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT777498	hsa-miR-4755-5p	CLIP-seq
MIRT777499	hsa-miR-4798-3p	CLIP-seq
MIRT777500	hsa-miR-548k	CLIP-seq
MIRT777501	hsa-miR-556-5p	CLIP-seq
MIRT777502	hsa-miR-558	CLIP-seq
MIRT777503	hsa-miR-563	CLIP-seq
MIRT777504	hsa-miR-589	CLIP-seq
MIRT777505	hsa-miR-623	CLIP-seq
MIRT777506	hsa-miR-943	CLIP-seq
MIRT777507	hsa-miR-1184	CLIP-seq
MIRT777508	hsa-miR-1205	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT777510	hsa-miR-1243	CLIP-seq
MIRT777511	hsa-miR-1255a	CLIP-seq
MIRT777512	hsa-miR-1255b	CLIP-seq
MIRT777513	hsa-miR-1261	CLIP-seq
MIRT777514	hsa-miR-1264	CLIP-seq
MIRT777515	hsa-miR-1273f	CLIP-seq
MIRT777516	hsa-miR-128	CLIP-seq
MIRT777517	hsa-miR-1285	CLIP-seq
MIRT777518	hsa-miR-1297	CLIP-seq
MIRT777519	hsa-miR-1303	CLIP-seq
MIRT777520	hsa-miR-1305	CLIP-seq
MIRT777521	hsa-miR-1324	CLIP-seq
MIRT777522	hsa-miR-138	CLIP-seq
MIRT777523	hsa-miR-144	CLIP-seq
MIRT777524	hsa-miR-145	CLIP-seq
MIRT777474	hsa-miR-146a	CLIP-seq
MIRT777475	hsa-miR-146b-5p	CLIP-seq
MIRT777525	hsa-miR-149	CLIP-seq
MIRT777526	hsa-miR-18a	CLIP-seq
MIRT777527	hsa-miR-18b	CLIP-seq
MIRT777528	hsa-miR-1913	CLIP-seq
MIRT777529	hsa-miR-1972	CLIP-seq
MIRT777476	hsa-miR-204	CLIP-seq
MIRT777478	hsa-miR-211	CLIP-seq
MIRT777530	hsa-miR-2110	CLIP-seq
MIRT777531	hsa-miR-2117	CLIP-seq
MIRT777532	hsa-miR-22	CLIP-seq
MIRT777533	hsa-miR-24	CLIP-seq
MIRT777534	hsa-miR-2682	CLIP-seq
MIRT777535	hsa-miR-26a	CLIP-seq
MIRT777536	hsa-miR-26b	CLIP-seq
MIRT777537	hsa-miR-27a	CLIP-seq
MIRT777538	hsa-miR-27b	CLIP-seq
MIRT777539	hsa-miR-296-5p	CLIP-seq
MIRT777540	hsa-miR-3064-5p	CLIP-seq
MIRT777480	hsa-miR-3074-5p	CLIP-seq
MIRT777541	hsa-miR-3121-3p	CLIP-seq
MIRT777482	hsa-miR-3124-3p	CLIP-seq
MIRT777542	hsa-miR-3125	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777544	hsa-miR-3143	CLIP-seq
MIRT777545	hsa-miR-3146	CLIP-seq
MIRT777546	hsa-miR-3148	CLIP-seq
MIRT777547	hsa-miR-3153	CLIP-seq
MIRT777548	hsa-miR-3158-5p	CLIP-seq
MIRT777549	hsa-miR-3169	CLIP-seq
MIRT777550	hsa-miR-3187-5p	CLIP-seq
MIRT777551	hsa-miR-3192	CLIP-seq
MIRT777552	hsa-miR-3194-3p	CLIP-seq
MIRT777553	hsa-miR-3197	CLIP-seq
MIRT777554	hsa-miR-323-3p	CLIP-seq
MIRT777555	hsa-miR-324-3p	CLIP-seq
MIRT777556	hsa-miR-326	CLIP-seq
MIRT777557	hsa-miR-330-5p	CLIP-seq
MIRT777558	hsa-miR-3607-5p	CLIP-seq
MIRT777559	hsa-miR-3622a-5p	CLIP-seq
MIRT777560	hsa-miR-3622b-5p	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777563	hsa-miR-3658	CLIP-seq
MIRT777564	hsa-miR-3662	CLIP-seq
MIRT777565	hsa-miR-3668	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777567	hsa-miR-3689d	CLIP-seq
MIRT777487	hsa-miR-370	CLIP-seq
MIRT777568	hsa-miR-378g	CLIP-seq
MIRT777569	hsa-miR-3907	CLIP-seq
MIRT777570	hsa-miR-3916	CLIP-seq
MIRT777571	hsa-miR-3918	CLIP-seq
MIRT777572	hsa-miR-3922-5p	CLIP-seq
MIRT777573	hsa-miR-3935	CLIP-seq
MIRT777488	hsa-miR-3940-5p	CLIP-seq
MIRT777574	hsa-miR-3973	CLIP-seq
MIRT777575	hsa-miR-3974	CLIP-seq
MIRT777576	hsa-miR-412	CLIP-seq
MIRT777489	hsa-miR-4251	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT777578	hsa-miR-4271	CLIP-seq
MIRT777579	hsa-miR-4272	CLIP-seq
MIRT777580	hsa-miR-4284	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT777582	hsa-miR-4314	CLIP-seq
MIRT777583	hsa-miR-4328	CLIP-seq
MIRT777584	hsa-miR-4425	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT777493	hsa-miR-4446-5p	CLIP-seq
MIRT777587	hsa-miR-4455	CLIP-seq
MIRT777588	hsa-miR-4459	CLIP-seq
MIRT777589	hsa-miR-4465	CLIP-seq
MIRT777590	hsa-miR-4474-3p	CLIP-seq
MIRT777591	hsa-miR-4476	CLIP-seq
MIRT777592	hsa-miR-4480	CLIP-seq
MIRT777593	hsa-miR-4486	CLIP-seq
MIRT777594	hsa-miR-449c	CLIP-seq
MIRT777595	hsa-miR-4501	CLIP-seq
MIRT777596	hsa-miR-4506	CLIP-seq
MIRT777495	hsa-miR-4507	CLIP-seq
MIRT777597	hsa-miR-450b-3p	CLIP-seq
MIRT777598	hsa-miR-4515	CLIP-seq
MIRT777599	hsa-miR-4641	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777601	hsa-miR-4646-5p	CLIP-seq
MIRT777602	hsa-miR-4659a-3p	CLIP-seq
MIRT777603	hsa-miR-4659b-3p	CLIP-seq
MIRT777604	hsa-miR-4660	CLIP-seq
MIRT777605	hsa-miR-4661-3p	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT777607	hsa-miR-4690-3p	CLIP-seq
MIRT777608	hsa-miR-4691-3p	CLIP-seq
MIRT777609	hsa-miR-4694-3p	CLIP-seq
MIRT777610	hsa-miR-4704-5p	CLIP-seq
MIRT777611	hsa-miR-4716-5p	CLIP-seq
MIRT777612	hsa-miR-4725-3p	CLIP-seq
MIRT777613	hsa-miR-4727-5p	CLIP-seq
MIRT777614	hsa-miR-4735-3p	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT777498	hsa-miR-4755-5p	CLIP-seq
MIRT777615	hsa-miR-4756-3p	CLIP-seq
MIRT777616	hsa-miR-4761-5p	CLIP-seq
MIRT777617	hsa-miR-4768-5p	CLIP-seq
MIRT777618	hsa-miR-4769-3p	CLIP-seq
MIRT777619	hsa-miR-4790-3p	CLIP-seq
MIRT777620	hsa-miR-4794	CLIP-seq
MIRT777621	hsa-miR-4795-3p	CLIP-seq
MIRT777499	hsa-miR-4798-3p	CLIP-seq
MIRT777622	hsa-miR-494	CLIP-seq
MIRT777623	hsa-miR-498	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT777625	hsa-miR-512-3p	CLIP-seq
MIRT777626	hsa-miR-513a-3p	CLIP-seq
MIRT777627	hsa-miR-513a-5p	CLIP-seq
MIRT777628	hsa-miR-526b	CLIP-seq
MIRT777629	hsa-miR-543	CLIP-seq
MIRT777630	hsa-miR-544	CLIP-seq
MIRT777500	hsa-miR-548k	CLIP-seq
MIRT777631	hsa-miR-548l	CLIP-seq
MIRT777632	hsa-miR-548n	CLIP-seq
MIRT777633	hsa-miR-549	CLIP-seq
MIRT777634	hsa-miR-577	CLIP-seq
MIRT777635	hsa-miR-579	CLIP-seq
MIRT777504	hsa-miR-589	CLIP-seq
MIRT777636	hsa-miR-609	CLIP-seq
MIRT777637	hsa-miR-612	CLIP-seq
MIRT777505	hsa-miR-623	CLIP-seq
MIRT777638	hsa-miR-624	CLIP-seq
MIRT777639	hsa-miR-644	CLIP-seq
MIRT777640	hsa-miR-653	CLIP-seq
MIRT777641	hsa-miR-656	CLIP-seq
MIRT777642	hsa-miR-720	CLIP-seq
MIRT777643	hsa-miR-769-3p	CLIP-seq
MIRT777644	hsa-miR-877	CLIP-seq
MIRT777645	hsa-miR-940	CLIP-seq
MIRT1929540	hsa-miR-1	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT1929542	hsa-miR-1193	CLIP-seq
MIRT1929543	hsa-miR-1207-3p	CLIP-seq
MIRT1929544	hsa-miR-1236	CLIP-seq
MIRT1929545	hsa-miR-1237	CLIP-seq
MIRT1929546	hsa-miR-1248	CLIP-seq
MIRT1929547	hsa-miR-1266	CLIP-seq
MIRT1929548	hsa-miR-1290	CLIP-seq
MIRT777473	hsa-miR-129-5p	CLIP-seq
MIRT777518	hsa-miR-1297	CLIP-seq
MIRT1929549	hsa-miR-1302	CLIP-seq
MIRT1929550	hsa-miR-1827	CLIP-seq
MIRT777529	hsa-miR-1972	CLIP-seq
MIRT1929551	hsa-miR-203	CLIP-seq
MIRT1929552	hsa-miR-206	CLIP-seq
MIRT1929553	hsa-miR-2392	CLIP-seq
MIRT1929554	hsa-miR-23a	CLIP-seq
MIRT1929555	hsa-miR-23b	CLIP-seq
MIRT1929556	hsa-miR-23c	CLIP-seq
MIRT777535	hsa-miR-26a	CLIP-seq
MIRT777536	hsa-miR-26b	CLIP-seq
MIRT777537	hsa-miR-27a	CLIP-seq
MIRT777538	hsa-miR-27b	CLIP-seq
MIRT1929557	hsa-miR-3122	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT1929558	hsa-miR-3149	CLIP-seq
MIRT1929559	hsa-miR-3152-3p	CLIP-seq
MIRT1929560	hsa-miR-3167	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929562	hsa-miR-3649	CLIP-seq
MIRT1929563	hsa-miR-365	CLIP-seq
MIRT1929564	hsa-miR-3667-3p	CLIP-seq
MIRT777567	hsa-miR-3689d	CLIP-seq
MIRT1929565	hsa-miR-3692	CLIP-seq
MIRT1929566	hsa-miR-3913-5p	CLIP-seq
MIRT1929567	hsa-miR-3921	CLIP-seq
MIRT777575	hsa-miR-3974	CLIP-seq
MIRT1929568	hsa-miR-411	CLIP-seq
MIRT777576	hsa-miR-412	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT1929569	hsa-miR-4270	CLIP-seq
MIRT777579	hsa-miR-4272	CLIP-seq
MIRT1929570	hsa-miR-4283	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT1929571	hsa-miR-4298	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT1929572	hsa-miR-4441	CLIP-seq
MIRT777588	hsa-miR-4459	CLIP-seq
MIRT777589	hsa-miR-4465	CLIP-seq
MIRT777590	hsa-miR-4474-3p	CLIP-seq
MIRT1929573	hsa-miR-4489	CLIP-seq
MIRT1929574	hsa-miR-4518	CLIP-seq
MIRT1929575	hsa-miR-4520a-5p	CLIP-seq
MIRT1929576	hsa-miR-4520b-5p	CLIP-seq
MIRT1929577	hsa-miR-4533	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT1929578	hsa-miR-4649-3p	CLIP-seq
MIRT1929579	hsa-miR-4653-5p	CLIP-seq
MIRT777602	hsa-miR-4659a-3p	CLIP-seq
MIRT777603	hsa-miR-4659b-3p	CLIP-seq
MIRT1929580	hsa-miR-4662a-5p	CLIP-seq
MIRT777496	hsa-miR-4663	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT1929581	hsa-miR-4676-5p	CLIP-seq
MIRT1929582	hsa-miR-4717-5p	CLIP-seq
MIRT1929583	hsa-miR-4731-5p	CLIP-seq
MIRT777497	hsa-miR-4747-5p	CLIP-seq
MIRT1929584	hsa-miR-4753-5p	CLIP-seq
MIRT1929585	hsa-miR-4755-3p	CLIP-seq
MIRT1929586	hsa-miR-483-5p	CLIP-seq
MIRT777623	hsa-miR-498	CLIP-seq
MIRT1929587	hsa-miR-508-5p	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT1929588	hsa-miR-5096	CLIP-seq
MIRT1929589	hsa-miR-510	CLIP-seq
MIRT777627	hsa-miR-513a-5p	CLIP-seq
MIRT1929590	hsa-miR-548ae	CLIP-seq
MIRT1929591	hsa-miR-548aj	CLIP-seq
MIRT1929592	hsa-miR-548am	CLIP-seq
MIRT1929593	hsa-miR-548x	CLIP-seq
MIRT1929594	hsa-miR-575	CLIP-seq
MIRT1929595	hsa-miR-613	CLIP-seq
MIRT777640	hsa-miR-653	CLIP-seq
MIRT777641	hsa-miR-656	CLIP-seq
MIRT1929596	hsa-miR-876-5p	CLIP-seq
MIRT1929597	hsa-miR-890	CLIP-seq
MIRT1929540	hsa-miR-1	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT2170413	hsa-miR-1182	CLIP-seq
MIRT777507	hsa-miR-1184	CLIP-seq
MIRT777508	hsa-miR-1205	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT1929549	hsa-miR-1302	CLIP-seq
MIRT2170414	hsa-miR-205	CLIP-seq
MIRT1929552	hsa-miR-206	CLIP-seq
MIRT1929554	hsa-miR-23a	CLIP-seq
MIRT1929555	hsa-miR-23b	CLIP-seq
MIRT1929556	hsa-miR-23c	CLIP-seq
MIRT2170415	hsa-miR-3117-5p	CLIP-seq
MIRT1929557	hsa-miR-3122	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT2170416	hsa-miR-3155	CLIP-seq
MIRT2170417	hsa-miR-3155b	CLIP-seq
MIRT777548	hsa-miR-3158-5p	CLIP-seq
MIRT2170418	hsa-miR-3166	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929562	hsa-miR-3649	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT2170419	hsa-miR-377	CLIP-seq
MIRT1929566	hsa-miR-3913-5p	CLIP-seq
MIRT777577	hsa-miR-4269	CLIP-seq
MIRT777581	hsa-miR-4294	CLIP-seq
MIRT1929571	hsa-miR-4298	CLIP-seq
MIRT2170420	hsa-miR-4305	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT777586	hsa-miR-4438	CLIP-seq
MIRT777592	hsa-miR-4480	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2170422	hsa-miR-4715-3p	CLIP-seq
MIRT777613	hsa-miR-4727-5p	CLIP-seq
MIRT2170423	hsa-miR-4733-3p	CLIP-seq
MIRT777616	hsa-miR-4761-5p	CLIP-seq
MIRT2170424	hsa-miR-4763-5p	CLIP-seq
MIRT777618	hsa-miR-4769-3p	CLIP-seq
MIRT2170425	hsa-miR-4771	CLIP-seq
MIRT2170426	hsa-miR-484	CLIP-seq
MIRT777624	hsa-miR-5095	CLIP-seq
MIRT2170427	hsa-miR-520g	CLIP-seq
MIRT2170428	hsa-miR-520h	CLIP-seq
MIRT1929595	hsa-miR-613	CLIP-seq
MIRT777642	hsa-miR-720	CLIP-seq
MIRT2170429	hsa-miR-888	CLIP-seq
MIRT1929561	hsa-miR-3189-3p	CLIP-seq
MIRT1929558	hsa-miR-3149	CLIP-seq
MIRT777514	hsa-miR-1264	CLIP-seq
MIRT777626	hsa-miR-513a-3p	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT2473068	hsa-miR-1281	CLIP-seq
MIRT2473069	hsa-miR-1343	CLIP-seq
MIRT2473070	hsa-miR-2276	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT2473071	hsa-miR-3647-3p	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT2473072	hsa-miR-4436a	CLIP-seq
MIRT2473073	hsa-miR-4470	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2473074	hsa-miR-4700-3p	CLIP-seq
MIRT2473075	hsa-miR-767-3p	CLIP-seq
MIRT1929541	hsa-miR-1178	CLIP-seq
MIRT777509	hsa-miR-122	CLIP-seq
MIRT2473068	hsa-miR-1281	CLIP-seq
MIRT2473069	hsa-miR-1343	CLIP-seq
MIRT2473070	hsa-miR-2276	CLIP-seq
MIRT777543	hsa-miR-3135b	CLIP-seq
MIRT777561	hsa-miR-3646	CLIP-seq
MIRT2473071	hsa-miR-3647-3p	CLIP-seq
MIRT777562	hsa-miR-3652	CLIP-seq
MIRT777566	hsa-miR-3688-5p	CLIP-seq
MIRT777585	hsa-miR-4430	CLIP-seq
MIRT2473072	hsa-miR-4436a	CLIP-seq
MIRT2473073	hsa-miR-4470	CLIP-seq
MIRT777600	hsa-miR-4645-5p	CLIP-seq
MIRT777606	hsa-miR-4673	CLIP-seq
MIRT2170421	hsa-miR-4695-3p	CLIP-seq
MIRT2473074	hsa-miR-4700-3p	CLIP-seq
MIRT2473075	hsa-miR-767-3p	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IBA
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IDA	9683595, 16199352
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	IEA
GO:0004777	Function	Succinate-semialdehyde dehydrogenase (NAD+) activity	ISS	7814412
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006105	Process	Succinate metabolic process	IEA
GO:0006105	Process	Succinate metabolic process	ISS
GO:0006536	Process	Glutamate metabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	ISS
GO:0007417	Process	Central nervous system development	IMP	9683595
GO:0009013	Function	Succinate-semialdehyde dehydrogenase [NAD(P)+] activity	IEA
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IBA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IDA	9683595
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IMP	15037717
GO:0009791	Process	Post-embryonic development	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	16199352
GO:0045202	Component	Synapse	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IEA

MIM	HGNC	e!Ensembl
610045	408	ENSG00000112294

P51649

Protein name

Succinate-semialdehyde dehydrogenase, mitochondrial (EC 1.2.1.24) (Aldehyde dehydrogenase family 5 member A1) (NAD(+)-dependent succinic semialdehyde dehydrogenase)

Protein function

Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).

PDB

2W8N , 2W8O , 2W8P , 2W8Q , 2W8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	69 → 530	Aldehyde dehydrogenase family	Family

Tissue specificity

TISSUE SPECIFICITY: Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.

Sequence

MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLR
TDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKER
SSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIH
TPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALAL
AELASQAGIPSGVYNVIPCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSV
KRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAF
AEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFF
EPTLLCNVTQDMLCTHEETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWR
VAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLELKYVCYGGL

Sequence length

535

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALDH5A1-related disorder	Pathogenic; Likely pathogenic	rs375628463, rs2532868287, rs751888532	RCV004745292 RCV003397772 RCV003396822	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic	rs1581815207	RCV000855504	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic	rs1581815207	RCV000855504	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Succinate-semialdehyde dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs1397344379, rs1294269013, rs985818920, rs2127385894, rs2127387279, rs747336313, rs748170674, rs1759308366, rs906284769, rs2127379151, rs953870735, rs2127382929, rs2127387936, rs2127389582, rs1421988285 View all (112 more)	RCV001388775 RCV001383232 RCV001383086 RCV001383176 RCV001389230 View all (127 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.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES, METABOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIC DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EEG abnormality	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEPROSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Metabolic Diseases, Nervous System	Nervous System Acquired Metabolic Diseases	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Dystonias	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Focal Dystonias	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult-Onset Idiopathic Torsion Dystonias	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	25109799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32402538	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Familial Dystonia	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Familial Dystonia	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases, Metabolic	Brain Diseases	CTD_human_DG	17438226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	23236365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28346042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Metabolic Disorders	Central Nervous System Metabolic Disorders	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Onset Dystonias	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39252305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	30801121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21438145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38287255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	21438145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	CTD_human_DG	17438226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, Primary	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonias, Sporadic	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16240371, 17457693, 20973619, 27918244, 29053743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32402538, 32887777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	22082659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36072903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Dystonia	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30404651, 36976494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21438145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	21438145	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic familial dystonia	Dystonia	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	16406321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	23825041		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32402538	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16406321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	14981524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28346042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	23825041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Disorder, Central Nervous System, Acquired	Metabolic Disorder, Central Nervous System	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	32223457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12743223, 16298354, 19172412, 26268900, 27268762, 7726383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36527006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23236365		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28346042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26685161, 28346042	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	23825041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudodystonia	Pycnodysostosis	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	32223457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	30829465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	30829465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32223457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	23825041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	16203683, 16240371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	24327614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	24327614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	BEFREE	10971205, 16203683, 16240371, 16545979, 17457693, 21438145, 23825041, 25122112, 25246302, 25431891, 27311541, 28664505, 30829465, 31117962, 31267348		★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	CLINVAR_DG	11243727, 14635103, 26964512, 28664505		★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	UNIPROT_DG	11243727, 11901270, 14635103		★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	16542398, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	CTD_human_DG	20018576, 23825041, 25641190, 29031482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	15093183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	CTD_human_DG	17438226		★★★★★ ★☆☆☆☆ Found in Text Mining only

ALDH5A1 (aldehyde dehydrogenase 5 family member A1)