DEGS1 (delta 4-desaturase, sphingolipid 1)

Gene

• Entrez ID: 8560
• Gene name: Delta 4-desaturase, sphingolipid 1
• Gene symbol: DEGS1
• Synonyms (NCBI Gene): DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
• Chromosome: 1
• Chromosome location: 1q42.11
• Summary: This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs768180196	A>G	Pathogenic	Missense variant, coding sequence variant
rs932183417	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1280845604	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1367958450	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1382083552	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1558209947	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558210191	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558211070	C>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020768	hsa-miR-155-5p	Proteomics	18668040
MIRT024553	hsa-miR-215-5p	Microarray	19074876
MIRT024553	hsa-miR-215-5p	Microarray	19074876
MIRT026493	hsa-miR-192-5p	Microarray	19074876
MIRT052511	hsa-let-7a-5p	CLASH	23622248
MIRT050636	hsa-miR-19b-3p	CLASH	23622248
MIRT047375	hsa-miR-34a-5p	CLASH	23622248
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679288	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT679287	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679286	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT677162	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT677161	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT677160	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT677159	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT677158	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT677157	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT677156	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT677155	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT677154	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT677153	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT677152	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT677151	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT677150	hsa-miR-302e	HITS-CLIP	23824327
MIRT677149	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT677148	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT677147	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT677146	hsa-miR-520b	HITS-CLIP	23824327
MIRT677145	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT677144	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT677143	hsa-miR-520e	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677142	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT677141	hsa-miR-520h	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT271531	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT560760	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT560759	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT271530	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT271528	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT271520	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT271526	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT271525	hsa-miR-1273f	PAR-CLIP	23446348
MIRT517621	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT517620	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT517619	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT517617	hsa-miR-548s	PAR-CLIP	23446348
MIRT517616	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT517615	hsa-miR-588	PAR-CLIP	23446348
MIRT517614	hsa-miR-4435	PAR-CLIP	23446348
MIRT517613	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT517612	hsa-miR-3170	PAR-CLIP	23446348
MIRT517611	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT517610	hsa-miR-5096	PAR-CLIP	23446348
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679288	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT679287	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679286	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT677162	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT677161	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT677160	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT677159	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT677158	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT677157	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT677156	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT677155	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT677154	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT677153	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT677152	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT677151	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT677150	hsa-miR-302e	HITS-CLIP	23824327
MIRT677149	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT677148	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT677147	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT677146	hsa-miR-520b	HITS-CLIP	23824327
MIRT677145	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT677144	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT677143	hsa-miR-520e	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677142	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT677141	hsa-miR-520h	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT271531	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT560760	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT560759	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT271530	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT271528	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT271520	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT271526	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT271525	hsa-miR-1273f	PAR-CLIP	23446348
MIRT517621	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT517620	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT517619	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT517617	hsa-miR-548s	PAR-CLIP	23446348
MIRT517616	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT517615	hsa-miR-588	PAR-CLIP	23446348
MIRT517614	hsa-miR-4435	PAR-CLIP	23446348
MIRT517613	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT517612	hsa-miR-3170	PAR-CLIP	23446348
MIRT517611	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT517610	hsa-miR-5096	PAR-CLIP	23446348
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT931985	hsa-miR-3646	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT931991	hsa-miR-4679	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT931994	hsa-miR-4760-3p	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT931997	hsa-miR-495	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT932001	hsa-miR-600	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT1975902	hsa-miR-1267	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT1975913	hsa-miR-3194-3p	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT1975926	hsa-miR-4700-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975926	hsa-miR-4700-3p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT1975902	hsa-miR-1267	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT2448147	hsa-miR-143	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT2448148	hsa-miR-193a-5p	CLIP-seq
MIRT1975913	hsa-miR-3194-3p	CLIP-seq
MIRT2448149	hsa-miR-431	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT2448150	hsa-miR-4708-5p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT2448151	hsa-miR-4770	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT2448152	hsa-miR-615-5p	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT2515171	hsa-miR-129-5p	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT2515172	hsa-miR-1914	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT2515173	hsa-miR-224	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT2515174	hsa-miR-33a	CLIP-seq
MIRT2515175	hsa-miR-33b	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT2515176	hsa-miR-4457	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT2515177	hsa-miR-450b-5p	CLIP-seq
MIRT2515178	hsa-miR-452	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT2515179	hsa-miR-4676-3p	CLIP-seq
MIRT2515180	hsa-miR-4677-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT2515181	hsa-miR-4731-3p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT2515182	hsa-miR-4765	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT2515183	hsa-miR-4801	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2515184	hsa-miR-507	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT2515185	hsa-miR-513b	CLIP-seq
MIRT2515186	hsa-miR-513c	CLIP-seq
MIRT2515187	hsa-miR-514b-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT2515188	hsa-miR-557	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT2515189	hsa-miR-943	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT2515171	hsa-miR-129-5p	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT2515172	hsa-miR-1914	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT2515173	hsa-miR-224	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT2515174	hsa-miR-33a	CLIP-seq
MIRT2515175	hsa-miR-33b	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT2515176	hsa-miR-4457	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT2515177	hsa-miR-450b-5p	CLIP-seq
MIRT2515178	hsa-miR-452	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT2515179	hsa-miR-4676-3p	CLIP-seq
MIRT2515180	hsa-miR-4677-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT2515181	hsa-miR-4731-3p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT2515182	hsa-miR-4765	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT2515183	hsa-miR-4801	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2515184	hsa-miR-507	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT2515185	hsa-miR-513b	CLIP-seq
MIRT2515186	hsa-miR-513c	CLIP-seq
MIRT2515187	hsa-miR-514b-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT2515188	hsa-miR-557	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT2515189	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	9188692
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS	9188692
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	TAS	9188692
GO:0009055	Function	Electron transfer activity	TAS	9188692
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9188692
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IBA
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IEA
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IMP	30620337, 30620338
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	TAS
GO:0043217	Process	Myelin maintenance	IMP	30620337, 30620338
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0050251	Function	Retinol isomerase activity	IDA	23143414
GO:0050251	Function	Retinol isomerase activity	IEA

Other IDs

• MIM: 615843
• HGNC: 13709
• e!Ensembl: ENSG00000143753

Protein

• UniProt ID: O15121
• Protein name: Sphingolipid delta(4)-desaturase DES1 (EC 1.14.19.17) (Cell migration-inducing gene 15 protein) (Degenerative spermatocyte homolog 1) (Dihydroceramide desaturase-1) (Membrane lipid desaturase) (Retinol isomerase) (EC 5.2.1.-)
• Protein function: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity). {E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08557	Lipid_DES	6 → 42	Sphingolipid Delta4-desaturase (DES)	Domain
  PF00487	FA_desaturase	64 → 293	Fatty acid desaturase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9188692}.
• Sequence:

  MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYI
  VKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPY
  SISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPK
  PITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGH
  ETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
  VMDDTISPYSRMKRHQKGEMVLE

• Sequence length: 323

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway

Reactome:

Sphingolipid de novo biosynthesis
Neutrophil degranulation

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
DEGS1-related Hypomyelinating Leukodystrophy	Likely pathogenic; Pathogenic	rs1280845604	RCV005645174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Pathogenic	rs768180196	RCV000786045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy, hypomyelinating, 18	Likely pathogenic; Pathogenic	rs2102658561, rs1273116884, rs2527259540, rs770197183, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1367958450, rs932183417	RCV001526451 RCV003228874 RCV003340682 RCV003985190 RCV000768570 RCV000768568 RCV000768571 RCV000768572 RCV000768573 RCV000768574 RCV000993676 RCV000993675	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEGS1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	29948059		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29411122		★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37122728	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39447728	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29102264, 29293619		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29319171		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37298446	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	30620338	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28114985		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37890668	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22418727, 23762204, 29319171, 31267721		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22418727, 23762204, 29319171, 31267721		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26187619		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34555062, 37890668	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19263436		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	29876311		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27894925		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27894925		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	31186544		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	27638601		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12794168		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	37298446	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28655651		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27846042, 29351232		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34332565	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37890668	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	29293619		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	27638601, 30620337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Leukodystrophy	CLINVAR_DG	31186544		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	37890668	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	27638601		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	30620337		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	34332565	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37122728	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28448568		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28114985		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29105877		★☆☆☆☆ Found in Text Mining only
Metachromatic Leukodystrophy, Adult-Type (disorder)	Metachromatic Leukodystrophy	BEFREE	16966551		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	22418727		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29293619		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31186544		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	11268322		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34488809	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30620338	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	11061266		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26934645, 27669432	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34332565	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29293619		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only