ALDH3A2 (aldehyde dehydrogenase 3 family member A2)

Gene

• Entrez ID: 224
• Gene name: Aldehyde dehydrogenase 3 family member A2
• Gene symbol: ALDH3A2
• Synonyms (NCBI Gene): ALDH10, FALDH, SLS
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutation

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72547556	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs72547561	C>G,T	Pathogenic	Stop gained, 5 prime UTR variant, missense variant, coding sequence variant
rs72547562	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs72547568	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs72547569	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs72547570	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72547571	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72547575	A>G	Pathogenic	Missense variant, coding sequence variant
rs148944691	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387906256	GA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906257	->ACAAA	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs767751416	CGACAGGCGTTCCTGTCCGGCCGGTC>-	Pathogenic	5 prime UTR variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs772967175	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs786205501	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs866392702	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039304	CCATC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs886039305	A>G,T	Pathogenic	Splice acceptor variant
rs1010078101	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517352	GTTTGT>-	Pathogenic	Intron variant, splice donor variant
rs1400349287	T>A,C,G	Likely-pathogenic	Intron variant
rs1555533541	T>G	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555534430	->TAAAAGTA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555534434	C>TGTTGGGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555534472	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567607328	A>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1597556369	TTGCAGGTGAGTCTGGCTCTCTGATTTTCTGAGGTTTTCCCAGCACAATGGAGACTTTTCCTGACAATGTTACTCTTTGTACTTGAACCCCATACCTTATGGCTCCAAGATACATTATTAAGCTTTGGTGGTTGATGTCCTCAAGAGTAACAGGAGTCTTTCACTGTCTCTTGGCGCCACTGTCAAAAATGGTGAGCTGTAAGTCCTGACATCATGTGGTTGTCCTTAGGAATTTTAAAAAAGTTATATCTGTTC	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020947	hsa-miR-155-5p	Proteomics	18668040
MIRT025933	hsa-miR-7-5p	Microarray	19073608
MIRT041373	hsa-miR-193b-3p	CLASH	23622248
MIRT777143	hsa-miR-101	CLIP-seq
MIRT777144	hsa-miR-106a	CLIP-seq
MIRT777145	hsa-miR-106b	CLIP-seq
MIRT777146	hsa-miR-1182	CLIP-seq
MIRT777147	hsa-miR-1208	CLIP-seq
MIRT777148	hsa-miR-1224-3p	CLIP-seq
MIRT777149	hsa-miR-1229	CLIP-seq
MIRT777150	hsa-miR-1234	CLIP-seq
MIRT777151	hsa-miR-125a-5p	CLIP-seq
MIRT777152	hsa-miR-125b	CLIP-seq
MIRT777153	hsa-miR-1260	CLIP-seq
MIRT777154	hsa-miR-1260b	CLIP-seq
MIRT777155	hsa-miR-1267	CLIP-seq
MIRT777156	hsa-miR-1272	CLIP-seq
MIRT777157	hsa-miR-1280	CLIP-seq
MIRT777158	hsa-miR-1288	CLIP-seq
MIRT777159	hsa-miR-129-5p	CLIP-seq
MIRT777160	hsa-miR-1305	CLIP-seq
MIRT777161	hsa-miR-1322	CLIP-seq
MIRT777162	hsa-miR-143	CLIP-seq
MIRT777163	hsa-miR-144	CLIP-seq
MIRT777164	hsa-miR-150	CLIP-seq
MIRT777165	hsa-miR-17	CLIP-seq
MIRT777166	hsa-miR-193a-5p	CLIP-seq
MIRT777167	hsa-miR-198	CLIP-seq
MIRT777168	hsa-miR-199a-3p	CLIP-seq
MIRT777169	hsa-miR-199b-3p	CLIP-seq
MIRT777170	hsa-miR-208a	CLIP-seq
MIRT777171	hsa-miR-208b	CLIP-seq
MIRT777172	hsa-miR-20a	CLIP-seq
MIRT777173	hsa-miR-20b	CLIP-seq
MIRT777174	hsa-miR-216a	CLIP-seq
MIRT777175	hsa-miR-216b	CLIP-seq
MIRT777176	hsa-miR-302a	CLIP-seq
MIRT777177	hsa-miR-302b	CLIP-seq
MIRT777178	hsa-miR-302c	CLIP-seq
MIRT777179	hsa-miR-302d	CLIP-seq
MIRT777180	hsa-miR-302e	CLIP-seq
MIRT777181	hsa-miR-3129-5p	CLIP-seq
MIRT777182	hsa-miR-3140-5p	CLIP-seq
MIRT777183	hsa-miR-3156-5p	CLIP-seq
MIRT777184	hsa-miR-3159	CLIP-seq
MIRT777185	hsa-miR-3169	CLIP-seq
MIRT777186	hsa-miR-3183	CLIP-seq
MIRT777187	hsa-miR-3194-3p	CLIP-seq
MIRT777188	hsa-miR-326	CLIP-seq
MIRT777189	hsa-miR-330-5p	CLIP-seq
MIRT777190	hsa-miR-3616-5p	CLIP-seq
MIRT777191	hsa-miR-3617	CLIP-seq
MIRT777192	hsa-miR-3647-5p	CLIP-seq
MIRT777193	hsa-miR-3658	CLIP-seq
MIRT777194	hsa-miR-3663-5p	CLIP-seq
MIRT777195	hsa-miR-371-5p	CLIP-seq
MIRT777196	hsa-miR-371b-5p	CLIP-seq
MIRT777197	hsa-miR-372	CLIP-seq
MIRT777198	hsa-miR-373	CLIP-seq
MIRT777199	hsa-miR-378	CLIP-seq
MIRT777200	hsa-miR-378b	CLIP-seq
MIRT777201	hsa-miR-378c	CLIP-seq
MIRT777202	hsa-miR-378d	CLIP-seq
MIRT777203	hsa-miR-378e	CLIP-seq
MIRT777204	hsa-miR-378f	CLIP-seq
MIRT777205	hsa-miR-378h	CLIP-seq
MIRT777206	hsa-miR-378i	CLIP-seq
MIRT777207	hsa-miR-3913-3p	CLIP-seq
MIRT777208	hsa-miR-3976	CLIP-seq
MIRT777209	hsa-miR-421	CLIP-seq
MIRT777210	hsa-miR-422a	CLIP-seq
MIRT777211	hsa-miR-4266	CLIP-seq
MIRT777212	hsa-miR-431	CLIP-seq
MIRT777213	hsa-miR-4319	CLIP-seq
MIRT777214	hsa-miR-4423-5p	CLIP-seq
MIRT777215	hsa-miR-4427	CLIP-seq
MIRT777216	hsa-miR-4438	CLIP-seq
MIRT777217	hsa-miR-4457	CLIP-seq
MIRT777218	hsa-miR-4464	CLIP-seq
MIRT777219	hsa-miR-4477a	CLIP-seq
MIRT777220	hsa-miR-4638-3p	CLIP-seq
MIRT777221	hsa-miR-4645-5p	CLIP-seq
MIRT777222	hsa-miR-4658	CLIP-seq
MIRT777223	hsa-miR-4673	CLIP-seq
MIRT777224	hsa-miR-4695-5p	CLIP-seq
MIRT777225	hsa-miR-4723-3p	CLIP-seq
MIRT777226	hsa-miR-4731-5p	CLIP-seq
MIRT777227	hsa-miR-4732-3p	CLIP-seq
MIRT777228	hsa-miR-4748	CLIP-seq
MIRT777229	hsa-miR-4758-5p	CLIP-seq
MIRT777230	hsa-miR-4760-3p	CLIP-seq
MIRT777231	hsa-miR-4765	CLIP-seq
MIRT777232	hsa-miR-4770	CLIP-seq
MIRT777233	hsa-miR-4775	CLIP-seq
MIRT777234	hsa-miR-4779	CLIP-seq
MIRT777235	hsa-miR-4795-5p	CLIP-seq
MIRT777236	hsa-miR-4797-5p	CLIP-seq
MIRT777237	hsa-miR-485-3p	CLIP-seq
MIRT777238	hsa-miR-499-3p	CLIP-seq
MIRT777239	hsa-miR-499-5p	CLIP-seq
MIRT777240	hsa-miR-499a-3p	CLIP-seq
MIRT777241	hsa-miR-5095	CLIP-seq
MIRT777242	hsa-miR-512-3p	CLIP-seq
MIRT777243	hsa-miR-513a-5p	CLIP-seq
MIRT777244	hsa-miR-513b	CLIP-seq
MIRT777245	hsa-miR-519d	CLIP-seq
MIRT777246	hsa-miR-520a-3p	CLIP-seq
MIRT777247	hsa-miR-520b	CLIP-seq
MIRT777248	hsa-miR-520c-3p	CLIP-seq
MIRT777249	hsa-miR-520d-3p	CLIP-seq
MIRT777250	hsa-miR-520e	CLIP-seq
MIRT777251	hsa-miR-520g	CLIP-seq
MIRT777252	hsa-miR-520h	CLIP-seq
MIRT777253	hsa-miR-532-3p	CLIP-seq
MIRT777254	hsa-miR-556-3p	CLIP-seq
MIRT777255	hsa-miR-573	CLIP-seq
MIRT777256	hsa-miR-582-5p	CLIP-seq
MIRT777257	hsa-miR-590-3p	CLIP-seq
MIRT777258	hsa-miR-641	CLIP-seq
MIRT777259	hsa-miR-645	CLIP-seq
MIRT777260	hsa-miR-670	CLIP-seq
MIRT777261	hsa-miR-892a	CLIP-seq
MIRT777262	hsa-miR-93	CLIP-seq
MIRT777263	hsa-miR-936	CLIP-seq
MIRT777264	hsa-miR-1178	CLIP-seq
MIRT777265	hsa-miR-1266	CLIP-seq
MIRT777266	hsa-miR-203	CLIP-seq
MIRT777267	hsa-miR-204	CLIP-seq
MIRT777268	hsa-miR-2052	CLIP-seq
MIRT777269	hsa-miR-211	CLIP-seq
MIRT777270	hsa-miR-345	CLIP-seq
MIRT777271	hsa-miR-3938	CLIP-seq
MIRT777272	hsa-miR-4256	CLIP-seq
MIRT777273	hsa-miR-4299	CLIP-seq
MIRT777274	hsa-miR-4446-3p	CLIP-seq
MIRT777275	hsa-miR-4456	CLIP-seq
MIRT777276	hsa-miR-4492	CLIP-seq
MIRT777277	hsa-miR-4498	CLIP-seq
MIRT777278	hsa-miR-4505	CLIP-seq
MIRT777279	hsa-miR-4518	CLIP-seq
MIRT777280	hsa-miR-4659a-5p	CLIP-seq
MIRT777281	hsa-miR-4659b-5p	CLIP-seq
MIRT777282	hsa-miR-4693-3p	CLIP-seq
MIRT777283	hsa-miR-4712-3p	CLIP-seq
MIRT777284	hsa-miR-4713-3p	CLIP-seq
MIRT777285	hsa-miR-4755-5p	CLIP-seq
MIRT777286	hsa-miR-4776-3p	CLIP-seq
MIRT777287	hsa-miR-548q	CLIP-seq
MIRT777288	hsa-miR-550b	CLIP-seq
MIRT777289	hsa-miR-623	CLIP-seq
MIRT777290	hsa-miR-629	CLIP-seq
MIRT777291	hsa-miR-762	CLIP-seq
MIRT777267	hsa-miR-204	CLIP-seq
MIRT777269	hsa-miR-211	CLIP-seq
MIRT777271	hsa-miR-3938	CLIP-seq
MIRT777280	hsa-miR-4659a-5p	CLIP-seq
MIRT777281	hsa-miR-4659b-5p	CLIP-seq
MIRT777285	hsa-miR-4755-5p	CLIP-seq
MIRT777286	hsa-miR-4776-3p	CLIP-seq
MIRT777289	hsa-miR-623	CLIP-seq
MIRT777267	hsa-miR-204	CLIP-seq
MIRT777269	hsa-miR-211	CLIP-seq
MIRT777271	hsa-miR-3938	CLIP-seq
MIRT777280	hsa-miR-4659a-5p	CLIP-seq
MIRT777281	hsa-miR-4659b-5p	CLIP-seq
MIRT777285	hsa-miR-4755-5p	CLIP-seq
MIRT777286	hsa-miR-4776-3p	CLIP-seq
MIRT777289	hsa-miR-623	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT777236	hsa-miR-4797-5p	CLIP-seq
MIRT1929507	hsa-miR-759	CLIP-seq
MIRT1929508	hsa-miR-1343	CLIP-seq
MIRT1929509	hsa-miR-181a	CLIP-seq
MIRT1929510	hsa-miR-181b	CLIP-seq
MIRT1929511	hsa-miR-181c	CLIP-seq
MIRT1929512	hsa-miR-181d	CLIP-seq
MIRT777190	hsa-miR-3616-5p	CLIP-seq
MIRT777192	hsa-miR-3647-5p	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT1929513	hsa-miR-4262	CLIP-seq
MIRT777235	hsa-miR-4795-5p	CLIP-seq
MIRT777255	hsa-miR-573	CLIP-seq
MIRT777144	hsa-miR-106a	CLIP-seq
MIRT777145	hsa-miR-106b	CLIP-seq
MIRT2170148	hsa-miR-1207-3p	CLIP-seq
MIRT777148	hsa-miR-1224-3p	CLIP-seq
MIRT777150	hsa-miR-1234	CLIP-seq
MIRT2170149	hsa-miR-125a-3p	CLIP-seq
MIRT777153	hsa-miR-1260	CLIP-seq
MIRT777154	hsa-miR-1260b	CLIP-seq
MIRT2170150	hsa-miR-1271	CLIP-seq
MIRT777157	hsa-miR-1280	CLIP-seq
MIRT2170151	hsa-miR-129-3p	CLIP-seq
MIRT1929508	hsa-miR-1343	CLIP-seq
MIRT777164	hsa-miR-150	CLIP-seq
MIRT777165	hsa-miR-17	CLIP-seq
MIRT2170152	hsa-miR-182	CLIP-seq
MIRT2170153	hsa-miR-186	CLIP-seq
MIRT777172	hsa-miR-20a	CLIP-seq
MIRT777173	hsa-miR-20b	CLIP-seq
MIRT777174	hsa-miR-216a	CLIP-seq
MIRT777175	hsa-miR-216b	CLIP-seq
MIRT777176	hsa-miR-302a	CLIP-seq
MIRT777177	hsa-miR-302b	CLIP-seq
MIRT777178	hsa-miR-302c	CLIP-seq
MIRT777179	hsa-miR-302d	CLIP-seq
MIRT777180	hsa-miR-302e	CLIP-seq
MIRT2170154	hsa-miR-3133	CLIP-seq
MIRT2170155	hsa-miR-3145-5p	CLIP-seq
MIRT777183	hsa-miR-3156-5p	CLIP-seq
MIRT2170156	hsa-miR-3157-5p	CLIP-seq
MIRT777191	hsa-miR-3617	CLIP-seq
MIRT2170157	hsa-miR-3682-3p	CLIP-seq
MIRT2170158	hsa-miR-3685	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT777195	hsa-miR-371-5p	CLIP-seq
MIRT777196	hsa-miR-371b-5p	CLIP-seq
MIRT777197	hsa-miR-372	CLIP-seq
MIRT777198	hsa-miR-373	CLIP-seq
MIRT777199	hsa-miR-378	CLIP-seq
MIRT777200	hsa-miR-378b	CLIP-seq
MIRT777201	hsa-miR-378c	CLIP-seq
MIRT777202	hsa-miR-378d	CLIP-seq
MIRT777203	hsa-miR-378e	CLIP-seq
MIRT777204	hsa-miR-378f	CLIP-seq
MIRT777205	hsa-miR-378h	CLIP-seq
MIRT777206	hsa-miR-378i	CLIP-seq
MIRT2170159	hsa-miR-384	CLIP-seq
MIRT777207	hsa-miR-3913-3p	CLIP-seq
MIRT2170160	hsa-miR-3915	CLIP-seq
MIRT2170161	hsa-miR-3928	CLIP-seq
MIRT2170162	hsa-miR-3977	CLIP-seq
MIRT777210	hsa-miR-422a	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT2170163	hsa-miR-4292	CLIP-seq
MIRT2170164	hsa-miR-4327	CLIP-seq
MIRT2170165	hsa-miR-4328	CLIP-seq
MIRT777216	hsa-miR-4438	CLIP-seq
MIRT777219	hsa-miR-4477a	CLIP-seq
MIRT2170166	hsa-miR-4503	CLIP-seq
MIRT2170167	hsa-miR-4637	CLIP-seq
MIRT2170168	hsa-miR-4646-5p	CLIP-seq
MIRT2170169	hsa-miR-4687-5p	CLIP-seq
MIRT2170170	hsa-miR-4705	CLIP-seq
MIRT2170171	hsa-miR-4731-3p	CLIP-seq
MIRT777226	hsa-miR-4731-5p	CLIP-seq
MIRT2170172	hsa-miR-4747-5p	CLIP-seq
MIRT2170173	hsa-miR-4760-5p	CLIP-seq
MIRT2170174	hsa-miR-4764-3p	CLIP-seq
MIRT777236	hsa-miR-4797-5p	CLIP-seq
MIRT2170175	hsa-miR-4801	CLIP-seq
MIRT777238	hsa-miR-499-3p	CLIP-seq
MIRT777240	hsa-miR-499a-3p	CLIP-seq
MIRT777241	hsa-miR-5095	CLIP-seq
MIRT777242	hsa-miR-512-3p	CLIP-seq
MIRT777243	hsa-miR-513a-5p	CLIP-seq
MIRT777245	hsa-miR-519d	CLIP-seq
MIRT777246	hsa-miR-520a-3p	CLIP-seq
MIRT777247	hsa-miR-520b	CLIP-seq
MIRT777248	hsa-miR-520c-3p	CLIP-seq
MIRT777249	hsa-miR-520d-3p	CLIP-seq
MIRT777250	hsa-miR-520e	CLIP-seq
MIRT777251	hsa-miR-520g	CLIP-seq
MIRT777252	hsa-miR-520h	CLIP-seq
MIRT777253	hsa-miR-532-3p	CLIP-seq
MIRT2170176	hsa-miR-552	CLIP-seq
MIRT2170177	hsa-miR-577	CLIP-seq
MIRT777257	hsa-miR-590-3p	CLIP-seq
MIRT2170178	hsa-miR-627	CLIP-seq
MIRT777258	hsa-miR-641	CLIP-seq
MIRT777259	hsa-miR-645	CLIP-seq
MIRT2170179	hsa-miR-646	CLIP-seq
MIRT2170180	hsa-miR-891b	CLIP-seq
MIRT777262	hsa-miR-93	CLIP-seq
MIRT2170181	hsa-miR-96	CLIP-seq
MIRT1929508	hsa-miR-1343	CLIP-seq
MIRT777187	hsa-miR-3194-3p	CLIP-seq
MIRT777190	hsa-miR-3616-5p	CLIP-seq
MIRT777192	hsa-miR-3647-5p	CLIP-seq
MIRT777194	hsa-miR-3663-5p	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT777195	hsa-miR-371-5p	CLIP-seq
MIRT777196	hsa-miR-371b-5p	CLIP-seq
MIRT777199	hsa-miR-378	CLIP-seq
MIRT777200	hsa-miR-378b	CLIP-seq
MIRT777201	hsa-miR-378c	CLIP-seq
MIRT777202	hsa-miR-378d	CLIP-seq
MIRT777203	hsa-miR-378e	CLIP-seq
MIRT777204	hsa-miR-378f	CLIP-seq
MIRT777205	hsa-miR-378h	CLIP-seq
MIRT777206	hsa-miR-378i	CLIP-seq
MIRT777210	hsa-miR-422a	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT777214	hsa-miR-4423-5p	CLIP-seq
MIRT777235	hsa-miR-4795-5p	CLIP-seq
MIRT777255	hsa-miR-573	CLIP-seq
MIRT777144	hsa-miR-106a	CLIP-seq
MIRT777145	hsa-miR-106b	CLIP-seq
MIRT2473009	hsa-miR-1184	CLIP-seq
MIRT777147	hsa-miR-1208	CLIP-seq
MIRT777148	hsa-miR-1224-3p	CLIP-seq
MIRT777149	hsa-miR-1229	CLIP-seq
MIRT2473010	hsa-miR-1231	CLIP-seq
MIRT777150	hsa-miR-1234	CLIP-seq
MIRT2170149	hsa-miR-125a-3p	CLIP-seq
MIRT777153	hsa-miR-1260	CLIP-seq
MIRT777154	hsa-miR-1260b	CLIP-seq
MIRT2170150	hsa-miR-1271	CLIP-seq
MIRT2473011	hsa-miR-1273f	CLIP-seq
MIRT2473012	hsa-miR-128	CLIP-seq
MIRT777157	hsa-miR-1280	CLIP-seq
MIRT777158	hsa-miR-1288	CLIP-seq
MIRT2170151	hsa-miR-129-3p	CLIP-seq
MIRT777159	hsa-miR-129-5p	CLIP-seq
MIRT777161	hsa-miR-1322	CLIP-seq
MIRT1929508	hsa-miR-1343	CLIP-seq
MIRT777162	hsa-miR-143	CLIP-seq
MIRT777164	hsa-miR-150	CLIP-seq
MIRT777165	hsa-miR-17	CLIP-seq
MIRT1929509	hsa-miR-181a	CLIP-seq
MIRT1929510	hsa-miR-181b	CLIP-seq
MIRT1929511	hsa-miR-181c	CLIP-seq
MIRT1929512	hsa-miR-181d	CLIP-seq
MIRT2170152	hsa-miR-182	CLIP-seq
MIRT2473013	hsa-miR-183	CLIP-seq
MIRT2170153	hsa-miR-186	CLIP-seq
MIRT2473014	hsa-miR-1913	CLIP-seq
MIRT2473015	hsa-miR-1915	CLIP-seq
MIRT777167	hsa-miR-198	CLIP-seq
MIRT777172	hsa-miR-20a	CLIP-seq
MIRT777173	hsa-miR-20b	CLIP-seq
MIRT777174	hsa-miR-216a	CLIP-seq
MIRT777175	hsa-miR-216b	CLIP-seq
MIRT777176	hsa-miR-302a	CLIP-seq
MIRT777177	hsa-miR-302b	CLIP-seq
MIRT777178	hsa-miR-302c	CLIP-seq
MIRT777179	hsa-miR-302d	CLIP-seq
MIRT777180	hsa-miR-302e	CLIP-seq
MIRT2473016	hsa-miR-3120-5p	CLIP-seq
MIRT2473017	hsa-miR-3125	CLIP-seq
MIRT2170154	hsa-miR-3133	CLIP-seq
MIRT2473018	hsa-miR-3137	CLIP-seq
MIRT2473019	hsa-miR-3149	CLIP-seq
MIRT777183	hsa-miR-3156-5p	CLIP-seq
MIRT777184	hsa-miR-3159	CLIP-seq
MIRT777185	hsa-miR-3169	CLIP-seq
MIRT777186	hsa-miR-3183	CLIP-seq
MIRT2473020	hsa-miR-3189-5p	CLIP-seq
MIRT2473021	hsa-miR-324-3p	CLIP-seq
MIRT777188	hsa-miR-326	CLIP-seq
MIRT777189	hsa-miR-330-5p	CLIP-seq
MIRT2473022	hsa-miR-346	CLIP-seq
MIRT2473023	hsa-miR-3655	CLIP-seq
MIRT777194	hsa-miR-3663-5p	CLIP-seq
MIRT2473024	hsa-miR-3672	CLIP-seq
MIRT2170157	hsa-miR-3682-3p	CLIP-seq
MIRT2473025	hsa-miR-3686	CLIP-seq
MIRT2473026	hsa-miR-3689d	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT2473027	hsa-miR-370	CLIP-seq
MIRT777195	hsa-miR-371-5p	CLIP-seq
MIRT777196	hsa-miR-371b-5p	CLIP-seq
MIRT777197	hsa-miR-372	CLIP-seq
MIRT777198	hsa-miR-373	CLIP-seq
MIRT2473028	hsa-miR-374c	CLIP-seq
MIRT2473029	hsa-miR-377	CLIP-seq
MIRT777199	hsa-miR-378	CLIP-seq
MIRT777200	hsa-miR-378b	CLIP-seq
MIRT777201	hsa-miR-378c	CLIP-seq
MIRT777202	hsa-miR-378d	CLIP-seq
MIRT777203	hsa-miR-378e	CLIP-seq
MIRT777204	hsa-miR-378f	CLIP-seq
MIRT777205	hsa-miR-378h	CLIP-seq
MIRT777206	hsa-miR-378i	CLIP-seq
MIRT2170160	hsa-miR-3915	CLIP-seq
MIRT2473030	hsa-miR-3916	CLIP-seq
MIRT2170161	hsa-miR-3928	CLIP-seq
MIRT777208	hsa-miR-3976	CLIP-seq
MIRT777210	hsa-miR-422a	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT777272	hsa-miR-4256	CLIP-seq
MIRT1929513	hsa-miR-4262	CLIP-seq
MIRT2473031	hsa-miR-4287	CLIP-seq
MIRT2473032	hsa-miR-4288	CLIP-seq
MIRT2170163	hsa-miR-4292	CLIP-seq
MIRT777273	hsa-miR-4299	CLIP-seq
MIRT2170164	hsa-miR-4327	CLIP-seq
MIRT2473033	hsa-miR-4443	CLIP-seq
MIRT2473034	hsa-miR-4445	CLIP-seq
MIRT777217	hsa-miR-4457	CLIP-seq
MIRT2473035	hsa-miR-4474-5p	CLIP-seq
MIRT2473036	hsa-miR-4635	CLIP-seq
MIRT2170167	hsa-miR-4637	CLIP-seq
MIRT777220	hsa-miR-4638-3p	CLIP-seq
MIRT777221	hsa-miR-4645-5p	CLIP-seq
MIRT2170168	hsa-miR-4646-5p	CLIP-seq
MIRT2473037	hsa-miR-4650-5p	CLIP-seq
MIRT777223	hsa-miR-4673	CLIP-seq
MIRT2473038	hsa-miR-4677-3p	CLIP-seq
MIRT2473039	hsa-miR-4679	CLIP-seq
MIRT2473040	hsa-miR-4684-3p	CLIP-seq
MIRT2473041	hsa-miR-4685-3p	CLIP-seq
MIRT2170169	hsa-miR-4687-5p	CLIP-seq
MIRT2170170	hsa-miR-4705	CLIP-seq
MIRT2473042	hsa-miR-4708-5p	CLIP-seq
MIRT2473043	hsa-miR-4710	CLIP-seq
MIRT2473044	hsa-miR-4715-3p	CLIP-seq
MIRT777225	hsa-miR-4723-3p	CLIP-seq
MIRT2473045	hsa-miR-4726-3p	CLIP-seq
MIRT2473046	hsa-miR-4733-5p	CLIP-seq
MIRT2473047	hsa-miR-4735-5p	CLIP-seq
MIRT2170172	hsa-miR-4747-5p	CLIP-seq
MIRT2473048	hsa-miR-4757-5p	CLIP-seq
MIRT2473049	hsa-miR-4758-3p	CLIP-seq
MIRT777232	hsa-miR-4770	CLIP-seq
MIRT777233	hsa-miR-4775	CLIP-seq
MIRT2473050	hsa-miR-4792	CLIP-seq
MIRT777236	hsa-miR-4797-5p	CLIP-seq
MIRT2473051	hsa-miR-488	CLIP-seq
MIRT777242	hsa-miR-512-3p	CLIP-seq
MIRT777243	hsa-miR-513a-5p	CLIP-seq
MIRT777244	hsa-miR-513b	CLIP-seq
MIRT777245	hsa-miR-519d	CLIP-seq
MIRT777246	hsa-miR-520a-3p	CLIP-seq
MIRT777247	hsa-miR-520b	CLIP-seq
MIRT777248	hsa-miR-520c-3p	CLIP-seq
MIRT777249	hsa-miR-520d-3p	CLIP-seq
MIRT777250	hsa-miR-520e	CLIP-seq
MIRT777251	hsa-miR-520g	CLIP-seq
MIRT777252	hsa-miR-520h	CLIP-seq
MIRT2473052	hsa-miR-522	CLIP-seq
MIRT777253	hsa-miR-532-3p	CLIP-seq
MIRT2170176	hsa-miR-552	CLIP-seq
MIRT2473053	hsa-miR-578	CLIP-seq
MIRT777257	hsa-miR-590-3p	CLIP-seq
MIRT2473054	hsa-miR-596	CLIP-seq
MIRT2170178	hsa-miR-627	CLIP-seq
MIRT2473055	hsa-miR-632	CLIP-seq
MIRT2473056	hsa-miR-642a	CLIP-seq
MIRT2473057	hsa-miR-655	CLIP-seq
MIRT2473058	hsa-miR-665	CLIP-seq
MIRT2473059	hsa-miR-671-5p	CLIP-seq
MIRT2473060	hsa-miR-765	CLIP-seq
MIRT2473061	hsa-miR-889	CLIP-seq
MIRT2170180	hsa-miR-891b	CLIP-seq
MIRT777261	hsa-miR-892a	CLIP-seq
MIRT777262	hsa-miR-93	CLIP-seq
MIRT2170181	hsa-miR-96	CLIP-seq
MIRT777144	hsa-miR-106a	CLIP-seq
MIRT777145	hsa-miR-106b	CLIP-seq
MIRT777147	hsa-miR-1208	CLIP-seq
MIRT777148	hsa-miR-1224-3p	CLIP-seq
MIRT777149	hsa-miR-1229	CLIP-seq
MIRT2473010	hsa-miR-1231	CLIP-seq
MIRT777150	hsa-miR-1234	CLIP-seq
MIRT2170149	hsa-miR-125a-3p	CLIP-seq
MIRT777153	hsa-miR-1260	CLIP-seq
MIRT777154	hsa-miR-1260b	CLIP-seq
MIRT2170150	hsa-miR-1271	CLIP-seq
MIRT2473011	hsa-miR-1273f	CLIP-seq
MIRT2473012	hsa-miR-128	CLIP-seq
MIRT777157	hsa-miR-1280	CLIP-seq
MIRT777158	hsa-miR-1288	CLIP-seq
MIRT2170151	hsa-miR-129-3p	CLIP-seq
MIRT777159	hsa-miR-129-5p	CLIP-seq
MIRT777161	hsa-miR-1322	CLIP-seq
MIRT1929508	hsa-miR-1343	CLIP-seq
MIRT777162	hsa-miR-143	CLIP-seq
MIRT777164	hsa-miR-150	CLIP-seq
MIRT777165	hsa-miR-17	CLIP-seq
MIRT2170152	hsa-miR-182	CLIP-seq
MIRT2674901	hsa-miR-1827	CLIP-seq
MIRT2473013	hsa-miR-183	CLIP-seq
MIRT2170153	hsa-miR-186	CLIP-seq
MIRT2473014	hsa-miR-1913	CLIP-seq
MIRT2473015	hsa-miR-1915	CLIP-seq
MIRT777167	hsa-miR-198	CLIP-seq
MIRT777172	hsa-miR-20a	CLIP-seq
MIRT777173	hsa-miR-20b	CLIP-seq
MIRT777174	hsa-miR-216a	CLIP-seq
MIRT777175	hsa-miR-216b	CLIP-seq
MIRT2674902	hsa-miR-2467-3p	CLIP-seq
MIRT777176	hsa-miR-302a	CLIP-seq
MIRT777177	hsa-miR-302b	CLIP-seq
MIRT777178	hsa-miR-302c	CLIP-seq
MIRT777179	hsa-miR-302d	CLIP-seq
MIRT777180	hsa-miR-302e	CLIP-seq
MIRT2473016	hsa-miR-3120-5p	CLIP-seq
MIRT2473017	hsa-miR-3125	CLIP-seq
MIRT2170154	hsa-miR-3133	CLIP-seq
MIRT777183	hsa-miR-3156-5p	CLIP-seq
MIRT777184	hsa-miR-3159	CLIP-seq
MIRT777185	hsa-miR-3169	CLIP-seq
MIRT777186	hsa-miR-3183	CLIP-seq
MIRT2473020	hsa-miR-3189-5p	CLIP-seq
MIRT2473021	hsa-miR-324-3p	CLIP-seq
MIRT777188	hsa-miR-326	CLIP-seq
MIRT777189	hsa-miR-330-5p	CLIP-seq
MIRT2473022	hsa-miR-346	CLIP-seq
MIRT2473023	hsa-miR-3655	CLIP-seq
MIRT777194	hsa-miR-3663-5p	CLIP-seq
MIRT2170157	hsa-miR-3682-3p	CLIP-seq
MIRT2473026	hsa-miR-3689d	CLIP-seq
MIRT1929505	hsa-miR-3690	CLIP-seq
MIRT777195	hsa-miR-371-5p	CLIP-seq
MIRT777196	hsa-miR-371b-5p	CLIP-seq
MIRT777197	hsa-miR-372	CLIP-seq
MIRT777198	hsa-miR-373	CLIP-seq
MIRT2473029	hsa-miR-377	CLIP-seq
MIRT777199	hsa-miR-378	CLIP-seq
MIRT777200	hsa-miR-378b	CLIP-seq
MIRT777201	hsa-miR-378c	CLIP-seq
MIRT777202	hsa-miR-378d	CLIP-seq
MIRT777203	hsa-miR-378e	CLIP-seq
MIRT777204	hsa-miR-378f	CLIP-seq
MIRT777205	hsa-miR-378h	CLIP-seq
MIRT777206	hsa-miR-378i	CLIP-seq
MIRT2170160	hsa-miR-3915	CLIP-seq
MIRT2473030	hsa-miR-3916	CLIP-seq
MIRT2170161	hsa-miR-3928	CLIP-seq
MIRT777208	hsa-miR-3976	CLIP-seq
MIRT777210	hsa-miR-422a	CLIP-seq
MIRT1929506	hsa-miR-4254	CLIP-seq
MIRT777272	hsa-miR-4256	CLIP-seq
MIRT2473031	hsa-miR-4287	CLIP-seq
MIRT2473032	hsa-miR-4288	CLIP-seq
MIRT2170163	hsa-miR-4292	CLIP-seq
MIRT777273	hsa-miR-4299	CLIP-seq
MIRT2170164	hsa-miR-4327	CLIP-seq
MIRT777216	hsa-miR-4438	CLIP-seq
MIRT2473033	hsa-miR-4443	CLIP-seq
MIRT2473034	hsa-miR-4445	CLIP-seq
MIRT777217	hsa-miR-4457	CLIP-seq
MIRT2473036	hsa-miR-4635	CLIP-seq
MIRT2170167	hsa-miR-4637	CLIP-seq
MIRT777220	hsa-miR-4638-3p	CLIP-seq
MIRT777221	hsa-miR-4645-5p	CLIP-seq
MIRT2170168	hsa-miR-4646-5p	CLIP-seq
MIRT2473037	hsa-miR-4650-5p	CLIP-seq
MIRT777223	hsa-miR-4673	CLIP-seq
MIRT2473038	hsa-miR-4677-3p	CLIP-seq
MIRT2473039	hsa-miR-4679	CLIP-seq
MIRT2473040	hsa-miR-4684-3p	CLIP-seq
MIRT2473041	hsa-miR-4685-3p	CLIP-seq
MIRT2170169	hsa-miR-4687-5p	CLIP-seq
MIRT2473042	hsa-miR-4708-5p	CLIP-seq
MIRT2473043	hsa-miR-4710	CLIP-seq
MIRT2473044	hsa-miR-4715-3p	CLIP-seq
MIRT777225	hsa-miR-4723-3p	CLIP-seq
MIRT2473045	hsa-miR-4726-3p	CLIP-seq
MIRT777226	hsa-miR-4731-5p	CLIP-seq
MIRT2473046	hsa-miR-4733-5p	CLIP-seq
MIRT2473047	hsa-miR-4735-5p	CLIP-seq
MIRT2170172	hsa-miR-4747-5p	CLIP-seq
MIRT2473048	hsa-miR-4757-5p	CLIP-seq
MIRT2473049	hsa-miR-4758-3p	CLIP-seq
MIRT777232	hsa-miR-4770	CLIP-seq
MIRT777233	hsa-miR-4775	CLIP-seq
MIRT2473050	hsa-miR-4792	CLIP-seq
MIRT777236	hsa-miR-4797-5p	CLIP-seq
MIRT2473051	hsa-miR-488	CLIP-seq
MIRT777241	hsa-miR-5095	CLIP-seq
MIRT777242	hsa-miR-512-3p	CLIP-seq
MIRT777243	hsa-miR-513a-5p	CLIP-seq
MIRT777244	hsa-miR-513b	CLIP-seq
MIRT777245	hsa-miR-519d	CLIP-seq
MIRT777246	hsa-miR-520a-3p	CLIP-seq
MIRT777247	hsa-miR-520b	CLIP-seq
MIRT777248	hsa-miR-520c-3p	CLIP-seq
MIRT777249	hsa-miR-520d-3p	CLIP-seq
MIRT777250	hsa-miR-520e	CLIP-seq
MIRT777251	hsa-miR-520g	CLIP-seq
MIRT777252	hsa-miR-520h	CLIP-seq
MIRT2473052	hsa-miR-522	CLIP-seq
MIRT777253	hsa-miR-532-3p	CLIP-seq
MIRT2170176	hsa-miR-552	CLIP-seq
MIRT2473053	hsa-miR-578	CLIP-seq
MIRT777257	hsa-miR-590-3p	CLIP-seq
MIRT2170178	hsa-miR-627	CLIP-seq
MIRT2473055	hsa-miR-632	CLIP-seq
MIRT2473056	hsa-miR-642a	CLIP-seq
MIRT2473058	hsa-miR-665	CLIP-seq
MIRT2473059	hsa-miR-671-5p	CLIP-seq
MIRT2473060	hsa-miR-765	CLIP-seq
MIRT2674903	hsa-miR-885-3p	CLIP-seq
MIRT2473061	hsa-miR-889	CLIP-seq
MIRT2170180	hsa-miR-891b	CLIP-seq
MIRT777261	hsa-miR-892a	CLIP-seq
MIRT2674904	hsa-miR-922	CLIP-seq
MIRT777262	hsa-miR-93	CLIP-seq
MIRT2170181	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004028	Function	3-chloroallyl aldehyde dehydrogenase activity	IBA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	9133646
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IMP	8528251, 15110319
GO:0005515	Function	Protein binding	IPI	25047030
GO:0005737	Component	Cytoplasm	IBA
GO:0005777	Component	Peroxisome	IDA	17510064
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006081	Process	Aldehyde metabolic process	IBA
GO:0006081	Process	Aldehyde metabolic process	IDA	9133646
GO:0006081	Process	Aldehyde metabolic process	IEA
GO:0006081	Process	Aldehyde metabolic process	NAS	8528251
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006714	Process	Sesquiterpenoid metabolic process	IDA	18035827
GO:0007417	Process	Central nervous system development	IMP	8528251
GO:0007422	Process	Peripheral nervous system development	IMP	8528251
GO:0008544	Process	Epidermis development	IMP	8528251
GO:0016020	Component	Membrane	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:0033306	Process	Phytol metabolic process	IMP	15110319
GO:0042803	Function	Protein homodimerization activity	IPI	25047030
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9133646
GO:0046458	Process	Hexadecanal metabolic process	IDA	25047030
GO:0046577	Function	Long-chain-alcohol oxidase activity	IDA	18035827
GO:0050061	Function	Long-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA	18035827, 25047030
GO:0052814	Function	Medium-chain fatty aldehyde dehydrogenase (NAD+) activity	IDA	18035827, 25047030
GO:0102673	Function	Fatty aldehyde dehydrogenase (NAD+) activity	IEA

Other IDs

• MIM: 609523
• HGNC: 403
• e!Ensembl: ENSG00000072210

Protein

• UniProt ID: P51648
• Protein name: Aldehyde dehydrogenase family 3 member A2 (EC 1.2.1.3) (EC 1.2.1.94) (Aldehyde dehydrogenase 10) (Fatty aldehyde dehydrogenase) (Microsomal aldehyde dehydrogenase)
• Protein function: Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:18035827, PubMed:18182499, PubMed:22633490, PubM
• PDB: 4QGK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	2 → 424	Aldehyde dehydrogenase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in liver (at protein level). {ECO:0000269|PubMed:9133646}.
• Sequence:

  MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQE
  VITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQ
  PLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDH
  IFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQT
  CIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKI
  AFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLA
  LYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFS
  HQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLV
  KAEYY

• Sequence length: 485

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ALDH3A2-related disorder	Likely pathogenic	rs2544371571	RCV003408608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral palsy	Pathogenic	rs730880264	RCV001794427	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Pathogenic	rs769821628	RCV005909231	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Pathogenic	rs786204741	RCV005867982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
	Likely pathogenic; Pathogenic	rs756687932, rs2152326471, rs2152328365, rs2152328724, rs750697040, rs2544349490, rs2544389390, rs2544393388, rs1336603960, rs369385931, rs768290318, rs2152331147, rs387906254, rs387906255, rs730880264, rs72547564, rs72547571, rs387906256, rs387906257, rs72547569, rs72547575, rs2544372211, rs751079690, rs2544371605, rs2544372602, rs2544357172, rs2544375892, rs2544360290, rs2544389543, rs2544389996, rs2544357144, rs72547554, rs786204741, rs72547562, rs786204677, rs786204759, rs786204625, rs786205501, rs2544372788, rs2544405849, rs72547559, rs1265969343, rs886039304, rs72547561, rs72547568, rs772967175, rs1400349287, rs1366970424, rs1456560062, rs2544405809, rs2544357981, rs767751416, rs1057517403, rs1057516863, rs1057516386, rs759874793, rs1057516481, rs1057516851, rs1057517190, rs1057517278, rs1057517352, rs757359379, rs1057516788, rs72547573, rs1057516742, rs1036733598, rs1057517299, rs1057517004, rs2544349280, rs2544357822, rs2544372398, rs781059624, rs2544383909, rs61737991, rs2152326510, rs2544360565, rs72547577, rs1428029642, rs2544371353, rs72547566, rs2544393489, rs2544405202, rs2544348561, rs2152325575, rs2544405335, rs2544405868, rs2084774156, rs779956047, rs2544405872, rs1567607328, rs2544383508, rs72547567, rs866392702, rs1295218502, rs1555533754, rs1447023449, rs2084819840, rs769821628, rs2544360487, rs377139218, rs2544372582, rs2544376116, rs2544376202, rs1457784654, rs112346474, rs2544393217, rs770427442	RCV001328371 RCV005014522 RCV005635126 RCV005614537 RCV004576147 RCV001506973 RCV001528111 RCV001783354 RCV001783360 RCV001785907 RCV003230721 RCV005016797 RCV000001703 RCV000001704 RCV000001705 RCV000001706 RCV000001707 RCV000001708 RCV000001709 RCV000001710 RCV000001711 RCV002249244 RCV002306488 RCV002306771 RCV002306791 RCV002309916 RCV002309022 RCV002309245 RCV002309508 RCV002309512 RCV002310290 RCV000169182 RCV000169590 RCV000169091 RCV000169484 RCV000169619 RCV000169395 RCV004527366 RCV002510391 RCV002510636 RCV003146205 RCV003155647 RCV003226269 RCV000316840 RCV000663418 RCV000409660 RCV003333599 RCV005616706 RCV005015022 RCV003989438 RCV004527524 RCV004587796 RCV000412337 RCV000409622 RCV000411762 RCV000409110 RCV000410260 RCV000412357 RCV000409048 RCV000412314 RCV000409063 RCV000412363 RCV000411163 RCV000411692 RCV000410901 RCV000411031 RCV000411369 RCV000410648 RCV000412202 RCV000410461 RCV000504626 RCV000505168 RCV000504979 RCV000588137 RCV000625950 RCV000667969 RCV000672658 RCV000670542 RCV000668072 RCV000665731 RCV000670121 RCV000672596 RCV000674269 RCV000673553 RCV000666076 RCV000666856 RCV000666849 RCV000670068 RCV000672357 RCV000667443 RCV000666846 RCV000668039 RCV000673274 RCV000668120 RCV000757940 RCV000761416 RCV000778493 RCV001334407 RCV000989773 RCV000991399 RCV001007560 RCV002265933 RCV001255500 RCV001263811 RCV001263812 RCV001263813 RCV001263814 RCV001263978 RCV001263979 RCV001263980 RCV001263981 RCV001291415	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN-LARSSON SYNDROME	—	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	11124298, 24346170		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37162726	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31549255		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34839022	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36085041	Associate	★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	23034980	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	30925032		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	11306053, 15834613, 16436457, 16525484, 23034980, 30372562, 31388754, 8884139, 9250352		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	16525484, 8884139		★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	31419339		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18035827	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14638678		★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	23404124		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	21410200		★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	7806215, 7981755		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	11306053, 15834613, 16436457, 23034980, 30372562, 31388754, 9250352		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	16525484, 8884139		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	20049467, 30372562	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21872273, 25047030		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30372562	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36451838	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29860458		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	23034980	Associate	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	16476818		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	BEFREE	31273323		★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23404124, 24346170	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	11124298		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21872273, 25047030		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36915111	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35053305	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	18076122		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	9250352		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	16525484, 8884139		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30157790	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31002395		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	15776426		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22852552	Associate	★☆☆☆☆ Found in Text Mining only
Papillomatosis	Papillomatosis	BEFREE	6183888		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	34039789	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36232996	Associate	★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	BEFREE	15834613		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	18076122		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	15776426, 18076122		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30265153		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	10577908, 10854114, 10971205, 11124298, 11306053, 11408337, 11978568, 15241804, 15834613, 1583866, 16436457, 16476818, 16525484, 16837225, 16996289, 17302612, 17902024, 18035827, 20883264, 21684788, 21872273, 22426667, 23034980, 24036493, 25047030, 25855245, 28543186, 29287679, 30085884, 30157790, 30372562, 30925032, 31388754, 31454520, 31512987, 31697031, 7273467, 7485163, 8528251, 8884139, 9204959, 9250352, 9254849, 9441870, 9662422, 9829906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	GENOMICS_ENGLAND_DG	10577908, 24357685, 25655951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	CLINVAR_DG	10577908, 10854114, 11408337, 15241804, 16546179, 18035827, 19124283, 21872273, 25047030, 28025403, 29183715, 9204959, 9250352, 9254849, 9829906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	UNIPROT_DG	10577908, 10792573, 8528251, 9254849, 9829906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	LHGDN	15110319, 15241804, 15931689, 16794583, 16996289, 17902024, 17971613, 17998529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	CTD_human_DG	16837225, 25641190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Sjogren-Larsson Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	16436457		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33148208, 36915111	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30265153		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	30925032		★☆☆☆☆ Found in Text Mining only