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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	256471
Gene name	Major facilitator superfamily domain containing 8
Gene symbol	MFSD8
Synonyms (NCBI Gene)	CCMDCLN7SLC74A1
Chromosome	4
Chromosome location	4q28.2
Summary	This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. Th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs118203975	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs118203976	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs118203977	A>C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs118203978	T>C,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs140948465	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs147750747	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150418024	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, benign	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs200319160	C>G,T	Pathogenic	Splice donor variant
rs267607235	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs556661896	A>G,T	Likely-pathogenic	Intron variant, stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs558274487	C>A,T	Pathogenic	Intron variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs559155109	A>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, missense variant
rs570989221	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs587778809	A>T	Pathogenic	Splice donor variant, intron variant
rs724159970	C>A	Pathogenic	Stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs724159971	G>A	Pathogenic, likely-pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, downstream transcript variant
rs727502800	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs727502801	->A	Pathogenic	Intron variant
rs749704755	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs751696703	T>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs755011754	G>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs775699005	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs776253867	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs778875017	G>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 3 prime UTR variant, missense variant
rs796052742	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs796052752	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs868732642	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs886041806	->A	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1057518388	T>C	Likely-pathogenic	3 prime UTR variant, splice acceptor variant, non coding transcript variant
rs1314967038	C>T	Pathogenic	Splice acceptor variant, intron variant
rs1422791271	->A	Likely-pathogenic	Splice donor variant
rs1439582451	C>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1460276679	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1553946656	C>T	Pathogenic	Splice donor variant
rs1553950197	C>T	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant, missense variant
rs1560747815	T>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1560776422	C>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1578794927	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs1578889355	AACTGGTGTTGTATACA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1578912362	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578912759	T>C	Likely-pathogenic	Splice acceptor variant

463

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miRTarBase ID	miRNA	Experiments	Reference
MIRT044382	hsa-miR-200c-3p	CLASH	23622248
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT504642	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT504637	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT504636	hsa-miR-4255	PAR-CLIP	20371350
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	20371350
MIRT504633	hsa-miR-4330	PAR-CLIP	20371350
MIRT504634	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT504632	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT504642	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT504637	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT504636	hsa-miR-4255	PAR-CLIP	20371350
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	20371350
MIRT504633	hsa-miR-4330	PAR-CLIP	20371350
MIRT504634	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT504632	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT504642	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT504637	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT504636	hsa-miR-4255	PAR-CLIP	21572407
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT504633	hsa-miR-4330	PAR-CLIP	21572407
MIRT504634	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT504632	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT504642	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT504637	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT504636	hsa-miR-4255	PAR-CLIP	21572407
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT504633	hsa-miR-4330	PAR-CLIP	21572407
MIRT504634	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT504632	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT504642	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT504637	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT504636	hsa-miR-4255	PAR-CLIP	23446348
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	23446348
MIRT504633	hsa-miR-4330	PAR-CLIP	23446348
MIRT504634	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT504632	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT499952	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT499951	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT499950	hsa-miR-3668	PAR-CLIP	24398324
MIRT499949	hsa-miR-7852-3p	PAR-CLIP	24398324
MIRT499948	hsa-miR-4272	PAR-CLIP	24398324
MIRT499947	hsa-miR-4670-3p	PAR-CLIP	24398324
MIRT499946	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT499945	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT499944	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT499943	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT499942	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT499941	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT499940	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT499939	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT499938	hsa-miR-4458	PAR-CLIP	24398324
MIRT499937	hsa-miR-4500	PAR-CLIP	24398324
MIRT499936	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT499935	hsa-miR-4650-3p	PAR-CLIP	24398324
MIRT499934	hsa-miR-6832-5p	PAR-CLIP	24398324
MIRT499933	hsa-miR-4732-5p	PAR-CLIP	24398324
MIRT499932	hsa-miR-3924	PAR-CLIP	24398324
MIRT447173	hsa-miR-1910-3p	PAR-CLIP	22100165
MIRT447172	hsa-miR-6511a-5p	PAR-CLIP	22100165
MIRT447170	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT447171	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT447169	hsa-miR-940	PAR-CLIP	22100165
MIRT447168	hsa-miR-2682-5p	PAR-CLIP	22100165
MIRT447167	hsa-miR-34b-5p	PAR-CLIP	22100165
MIRT447166	hsa-miR-449c-5p	PAR-CLIP	22100165
MIRT447165	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT447164	hsa-miR-548ax	PAR-CLIP	22100165
MIRT447163	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT447161	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT447162	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT447160	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT447159	hsa-miR-449a	PAR-CLIP	22100165
MIRT447158	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT447157	hsa-miR-7641	PAR-CLIP	22100165
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT504642	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT504637	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT504636	hsa-miR-4255	PAR-CLIP	20371350
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	20371350
MIRT504633	hsa-miR-4330	PAR-CLIP	20371350
MIRT504634	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT504632	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT504642	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT504637	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT504636	hsa-miR-4255	PAR-CLIP	20371350
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	20371350
MIRT504633	hsa-miR-4330	PAR-CLIP	20371350
MIRT504634	hsa-miR-142-3p	PAR-CLIP	20371350
MIRT504632	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT504642	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT504637	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT504636	hsa-miR-4255	PAR-CLIP	21572407
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT504633	hsa-miR-4330	PAR-CLIP	21572407
MIRT504634	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT504632	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT504642	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT504637	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT504636	hsa-miR-4255	PAR-CLIP	21572407
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	21572407
MIRT504633	hsa-miR-4330	PAR-CLIP	21572407
MIRT504634	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT504632	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504645	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT504643	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT504642	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT504641	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT504640	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT504639	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT504638	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT504637	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT504636	hsa-miR-4255	PAR-CLIP	23446348
MIRT504635	hsa-miR-4714-3p	PAR-CLIP	23446348
MIRT504633	hsa-miR-4330	PAR-CLIP	23446348
MIRT504634	hsa-miR-142-3p	PAR-CLIP	23446348
MIRT504632	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT504631	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT499952	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT499951	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT499950	hsa-miR-3668	PAR-CLIP	24398324
MIRT499949	hsa-miR-7852-3p	PAR-CLIP	24398324
MIRT499948	hsa-miR-4272	PAR-CLIP	24398324
MIRT499947	hsa-miR-4670-3p	PAR-CLIP	24398324
MIRT499946	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT499945	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT499944	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT499943	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT499942	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT499941	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT499940	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT499939	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT499938	hsa-miR-4458	PAR-CLIP	24398324
MIRT499937	hsa-miR-4500	PAR-CLIP	24398324
MIRT499936	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT499935	hsa-miR-4650-3p	PAR-CLIP	24398324
MIRT499934	hsa-miR-6832-5p	PAR-CLIP	24398324
MIRT499933	hsa-miR-4732-5p	PAR-CLIP	24398324
MIRT499932	hsa-miR-3924	PAR-CLIP	24398324
MIRT447173	hsa-miR-1910-3p	PAR-CLIP	22100165
MIRT447172	hsa-miR-6511a-5p	PAR-CLIP	22100165
MIRT447170	hsa-miR-6808-5p	PAR-CLIP	22100165
MIRT447171	hsa-miR-6893-5p	PAR-CLIP	22100165
MIRT447169	hsa-miR-940	PAR-CLIP	22100165
MIRT447168	hsa-miR-2682-5p	PAR-CLIP	22100165
MIRT447167	hsa-miR-34b-5p	PAR-CLIP	22100165
MIRT447166	hsa-miR-449c-5p	PAR-CLIP	22100165
MIRT447165	hsa-miR-548ao-5p	PAR-CLIP	22100165
MIRT447164	hsa-miR-548ax	PAR-CLIP	22100165
MIRT447163	hsa-miR-5585-5p	PAR-CLIP	22100165
MIRT447161	hsa-miR-4695-3p	PAR-CLIP	22100165
MIRT447162	hsa-miR-34a-5p	PAR-CLIP	22100165
MIRT447160	hsa-miR-34c-5p	PAR-CLIP	22100165
MIRT447159	hsa-miR-449a	PAR-CLIP	22100165
MIRT447158	hsa-miR-449b-5p	PAR-CLIP	22100165
MIRT447157	hsa-miR-7641	PAR-CLIP	22100165
MIRT1146567	hsa-let-7a	CLIP-seq
MIRT1146568	hsa-let-7b	CLIP-seq
MIRT1146569	hsa-let-7c	CLIP-seq
MIRT1146570	hsa-let-7d	CLIP-seq
MIRT1146571	hsa-let-7e	CLIP-seq
MIRT1146572	hsa-let-7f	CLIP-seq
MIRT1146573	hsa-let-7g	CLIP-seq
MIRT1146574	hsa-let-7i	CLIP-seq
MIRT1146575	hsa-miR-106a	CLIP-seq
MIRT1146576	hsa-miR-106b	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146578	hsa-miR-1204	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT1146580	hsa-miR-1244	CLIP-seq
MIRT1146581	hsa-miR-142-5p	CLIP-seq
MIRT1146582	hsa-miR-17	CLIP-seq
MIRT1146583	hsa-miR-202	CLIP-seq
MIRT1146584	hsa-miR-20a	CLIP-seq
MIRT1146585	hsa-miR-20b	CLIP-seq
MIRT1146586	hsa-miR-23a	CLIP-seq
MIRT1146587	hsa-miR-23b	CLIP-seq
MIRT1146588	hsa-miR-23c	CLIP-seq
MIRT1146589	hsa-miR-3117-5p	CLIP-seq
MIRT1146590	hsa-miR-3130-3p	CLIP-seq
MIRT1146591	hsa-miR-3132	CLIP-seq
MIRT1146592	hsa-miR-3136-3p	CLIP-seq
MIRT1146593	hsa-miR-3153	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT1146595	hsa-miR-320e	CLIP-seq
MIRT1146596	hsa-miR-340	CLIP-seq
MIRT1146597	hsa-miR-3609	CLIP-seq
MIRT1146598	hsa-miR-3613-3p	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT1146601	hsa-miR-3665	CLIP-seq
MIRT1146602	hsa-miR-371-5p	CLIP-seq
MIRT1146603	hsa-miR-371b-5p	CLIP-seq
MIRT1146604	hsa-miR-376c	CLIP-seq
MIRT1146605	hsa-miR-425	CLIP-seq
MIRT1146606	hsa-miR-4289	CLIP-seq
MIRT1146607	hsa-miR-4303	CLIP-seq
MIRT1146608	hsa-miR-4438	CLIP-seq
MIRT1146609	hsa-miR-4446-5p	CLIP-seq
MIRT1146610	hsa-miR-4451	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT1146612	hsa-miR-4646-5p	CLIP-seq
MIRT1146613	hsa-miR-4649-3p	CLIP-seq
MIRT1146614	hsa-miR-4652-3p	CLIP-seq
MIRT1146615	hsa-miR-4659a-3p	CLIP-seq
MIRT1146616	hsa-miR-4659b-3p	CLIP-seq
MIRT1146617	hsa-miR-4668-5p	CLIP-seq
MIRT1146618	hsa-miR-4698	CLIP-seq
MIRT1146619	hsa-miR-4716-5p	CLIP-seq
MIRT1146620	hsa-miR-4729	CLIP-seq
MIRT1146621	hsa-miR-4762-3p	CLIP-seq
MIRT1146622	hsa-miR-4796-3p	CLIP-seq
MIRT1146623	hsa-miR-5095	CLIP-seq
MIRT1146624	hsa-miR-513c	CLIP-seq
MIRT1146625	hsa-miR-514b-5p	CLIP-seq
MIRT1146626	hsa-miR-519a	CLIP-seq
MIRT1146627	hsa-miR-519b-3p	CLIP-seq
MIRT1146628	hsa-miR-519c-3p	CLIP-seq
MIRT1146629	hsa-miR-519d	CLIP-seq
MIRT1146630	hsa-miR-520f	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT1146632	hsa-miR-548ah	CLIP-seq
MIRT1146633	hsa-miR-562	CLIP-seq
MIRT1146634	hsa-miR-579	CLIP-seq
MIRT1146635	hsa-miR-657	CLIP-seq
MIRT1146636	hsa-miR-663b	CLIP-seq
MIRT1146637	hsa-miR-664	CLIP-seq
MIRT1146638	hsa-miR-93	CLIP-seq
MIRT1146639	hsa-miR-942	CLIP-seq
MIRT1146640	hsa-miR-98	CLIP-seq
MIRT1146567	hsa-let-7a	CLIP-seq
MIRT1146568	hsa-let-7b	CLIP-seq
MIRT1146569	hsa-let-7c	CLIP-seq
MIRT1146570	hsa-let-7d	CLIP-seq
MIRT1146571	hsa-let-7e	CLIP-seq
MIRT1146572	hsa-let-7f	CLIP-seq
MIRT1146573	hsa-let-7g	CLIP-seq
MIRT1146574	hsa-let-7i	CLIP-seq
MIRT2041740	hsa-miR-1179	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT1146583	hsa-miR-202	CLIP-seq
MIRT1146586	hsa-miR-23a	CLIP-seq
MIRT1146587	hsa-miR-23b	CLIP-seq
MIRT1146588	hsa-miR-23c	CLIP-seq
MIRT1146589	hsa-miR-3117-5p	CLIP-seq
MIRT2041741	hsa-miR-3152-5p	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT2041742	hsa-miR-3161	CLIP-seq
MIRT2041743	hsa-miR-325	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT2041744	hsa-miR-3671	CLIP-seq
MIRT2041745	hsa-miR-3927	CLIP-seq
MIRT1146606	hsa-miR-4289	CLIP-seq
MIRT1146607	hsa-miR-4303	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT1146613	hsa-miR-4649-3p	CLIP-seq
MIRT1146620	hsa-miR-4729	CLIP-seq
MIRT1146621	hsa-miR-4762-3p	CLIP-seq
MIRT2041746	hsa-miR-4768-5p	CLIP-seq
MIRT2041747	hsa-miR-4774-3p	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT1146634	hsa-miR-579	CLIP-seq
MIRT1146637	hsa-miR-664	CLIP-seq
MIRT1146640	hsa-miR-98	CLIP-seq
MIRT1146567	hsa-let-7a	CLIP-seq
MIRT1146568	hsa-let-7b	CLIP-seq
MIRT1146569	hsa-let-7c	CLIP-seq
MIRT1146570	hsa-let-7d	CLIP-seq
MIRT1146571	hsa-let-7e	CLIP-seq
MIRT1146572	hsa-let-7f	CLIP-seq
MIRT1146573	hsa-let-7g	CLIP-seq
MIRT1146574	hsa-let-7i	CLIP-seq
MIRT1146575	hsa-miR-106a	CLIP-seq
MIRT1146576	hsa-miR-106b	CLIP-seq
MIRT2041740	hsa-miR-1179	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT2271283	hsa-miR-1227	CLIP-seq
MIRT2271284	hsa-miR-1343	CLIP-seq
MIRT1146582	hsa-miR-17	CLIP-seq
MIRT2271285	hsa-miR-1976	CLIP-seq
MIRT1146583	hsa-miR-202	CLIP-seq
MIRT1146584	hsa-miR-20a	CLIP-seq
MIRT1146585	hsa-miR-20b	CLIP-seq
MIRT2271286	hsa-miR-2116	CLIP-seq
MIRT1146586	hsa-miR-23a	CLIP-seq
MIRT1146587	hsa-miR-23b	CLIP-seq
MIRT1146588	hsa-miR-23c	CLIP-seq
MIRT2271287	hsa-miR-302a	CLIP-seq
MIRT2271288	hsa-miR-302b	CLIP-seq
MIRT2271289	hsa-miR-302c	CLIP-seq
MIRT2271290	hsa-miR-302d	CLIP-seq
MIRT2271291	hsa-miR-302e	CLIP-seq
MIRT1146589	hsa-miR-3117-5p	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT2041742	hsa-miR-3161	CLIP-seq
MIRT2271292	hsa-miR-3176	CLIP-seq
MIRT2041743	hsa-miR-325	CLIP-seq
MIRT2271293	hsa-miR-361-5p	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT2271294	hsa-miR-3663-5p	CLIP-seq
MIRT2271295	hsa-miR-372	CLIP-seq
MIRT2271296	hsa-miR-373	CLIP-seq
MIRT2271297	hsa-miR-3922-3p	CLIP-seq
MIRT2271298	hsa-miR-410	CLIP-seq
MIRT1146605	hsa-miR-425	CLIP-seq
MIRT2271299	hsa-miR-4273	CLIP-seq
MIRT1146606	hsa-miR-4289	CLIP-seq
MIRT2271300	hsa-miR-4297	CLIP-seq
MIRT1146607	hsa-miR-4303	CLIP-seq
MIRT2271301	hsa-miR-4307	CLIP-seq
MIRT2271302	hsa-miR-4310	CLIP-seq
MIRT2271303	hsa-miR-4312	CLIP-seq
MIRT2271304	hsa-miR-4452	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT2271305	hsa-miR-4635	CLIP-seq
MIRT1146613	hsa-miR-4649-3p	CLIP-seq
MIRT2271306	hsa-miR-4677-5p	CLIP-seq
MIRT1146618	hsa-miR-4698	CLIP-seq
MIRT2271307	hsa-miR-4722-3p	CLIP-seq
MIRT1146620	hsa-miR-4729	CLIP-seq
MIRT2271308	hsa-miR-4731-5p	CLIP-seq
MIRT2271309	hsa-miR-4757-5p	CLIP-seq
MIRT1146621	hsa-miR-4762-3p	CLIP-seq
MIRT2271310	hsa-miR-512-3p	CLIP-seq
MIRT1146629	hsa-miR-519d	CLIP-seq
MIRT2271311	hsa-miR-520a-3p	CLIP-seq
MIRT2271312	hsa-miR-520b	CLIP-seq
MIRT2271313	hsa-miR-520c-3p	CLIP-seq
MIRT2271314	hsa-miR-520d-3p	CLIP-seq
MIRT2271315	hsa-miR-520e	CLIP-seq
MIRT2271316	hsa-miR-520g	CLIP-seq
MIRT2271317	hsa-miR-520h	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT2271318	hsa-miR-548u	CLIP-seq
MIRT2271319	hsa-miR-567	CLIP-seq
MIRT2271320	hsa-miR-578	CLIP-seq
MIRT1146634	hsa-miR-579	CLIP-seq
MIRT2271321	hsa-miR-628-3p	CLIP-seq
MIRT1146637	hsa-miR-664	CLIP-seq
MIRT1146638	hsa-miR-93	CLIP-seq
MIRT1146640	hsa-miR-98	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT2570433	hsa-miR-1206	CLIP-seq
MIRT2570434	hsa-miR-124	CLIP-seq
MIRT1146586	hsa-miR-23a	CLIP-seq
MIRT1146587	hsa-miR-23b	CLIP-seq
MIRT1146588	hsa-miR-23c	CLIP-seq
MIRT2570435	hsa-miR-24	CLIP-seq
MIRT2570436	hsa-miR-2467-3p	CLIP-seq
MIRT1146589	hsa-miR-3117-5p	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT2570437	hsa-miR-3714	CLIP-seq
MIRT2570438	hsa-miR-3910	CLIP-seq
MIRT2570439	hsa-miR-421	CLIP-seq
MIRT2570440	hsa-miR-4257	CLIP-seq
MIRT2570441	hsa-miR-4284	CLIP-seq
MIRT1146606	hsa-miR-4289	CLIP-seq
MIRT2570442	hsa-miR-4432	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT2570443	hsa-miR-4539	CLIP-seq
MIRT1146620	hsa-miR-4729	CLIP-seq
MIRT2570444	hsa-miR-506	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT2271318	hsa-miR-548u	CLIP-seq
MIRT1146637	hsa-miR-664	CLIP-seq
MIRT1146577	hsa-miR-1184	CLIP-seq
MIRT1146579	hsa-miR-1205	CLIP-seq
MIRT2570433	hsa-miR-1206	CLIP-seq
MIRT2570434	hsa-miR-124	CLIP-seq
MIRT1146586	hsa-miR-23a	CLIP-seq
MIRT1146587	hsa-miR-23b	CLIP-seq
MIRT1146588	hsa-miR-23c	CLIP-seq
MIRT2570436	hsa-miR-2467-3p	CLIP-seq
MIRT1146589	hsa-miR-3117-5p	CLIP-seq
MIRT1146594	hsa-miR-3158-5p	CLIP-seq
MIRT1146599	hsa-miR-3653	CLIP-seq
MIRT1146600	hsa-miR-3658	CLIP-seq
MIRT2570437	hsa-miR-3714	CLIP-seq
MIRT2570438	hsa-miR-3910	CLIP-seq
MIRT1146606	hsa-miR-4289	CLIP-seq
MIRT1146611	hsa-miR-4477a	CLIP-seq
MIRT2570443	hsa-miR-4539	CLIP-seq
MIRT2684953	hsa-miR-4678	CLIP-seq
MIRT1146620	hsa-miR-4729	CLIP-seq
MIRT2570444	hsa-miR-506	CLIP-seq
MIRT1146631	hsa-miR-544	CLIP-seq
MIRT2684954	hsa-miR-548m	CLIP-seq
MIRT1146637	hsa-miR-664	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IDA	34910516
GO:0005254	Function	Chloride channel activity	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	34910516
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0006096	Process	Glycolytic process	IEA
GO:0006664	Process	Glycolipid metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0010008	Component	Endosome membrane	IDA	34910516
GO:0010008	Component	Endosome membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010506	Process	Regulation of autophagy	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0015111	Function	Iodide transmembrane transporter activity	IBA
GO:0015111	Function	Iodide transmembrane transporter activity	IDA	34910516
GO:0015705	Process	Iodide transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0038202	Process	TORC1 signaling	IEA
GO:0042063	Process	Gliogenesis	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045333	Process	Cellular respiration	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051235	Process	Maintenance of location	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0062054	Function	Fluoride channel activity	IDA	34910516
GO:0070841	Process	Inclusion body assembly	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0097352	Process	Autophagosome maturation	IBA
GO:0097352	Process	Autophagosome maturation	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1903424	Process	Fluoride transmembrane transport	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IEA
GO:1905165	Process	Regulation of lysosomal protein catabolic process	IEA

MIM	HGNC	e!Ensembl
611124	28486	ENSG00000164073

Q8NHS3

Protein name

Major facilitator superfamily domain-containing protein 8 (Ceroid-lipofuscinosis neuronal protein 7)

Protein function

Outward-rectifying chloride channel involved in endolysosomal chloride homeostasis, membrane fusion and function. Conducts chloride currents up to hundreds of picoamperes. Regulates lysosomal calcium content by reducing the lysosomal membrane po

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	42 → 373	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at very low levels in all tissues tested. {ECO:0000269|PubMed:17564970}.

Sequence

MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSI
WPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCL
YAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGF
ILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAW
TQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQ
FPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDDNERPTGCSIEQAWCLYTPVIHLAQFL
TSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE

Sequence length

518

Interactions

View interactions

	KEGG
	Lysosome

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs559155109	RCV005418155	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary ataxia	Likely pathogenic; Pathogenic	rs868732642	RCV005626180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Late-infantile neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs571950296, rs2148840216, rs140948465, rs724159970, rs796052742, rs2546165318, rs1057518388, rs200319160, rs587778809, rs749315686, rs1739594685, rs868732642	RCV001831364 RCV005607021 RCV001826401 RCV001276178 RCV005614384 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular dystrophy with central cone involvement	Likely pathogenic; Pathogenic	rs1156864297, rs571950296, rs760049336, rs118203977, rs267607235, rs724159970, rs727502800, rs724159971, rs1578986310, rs2546137643, rs796052752, rs559155109, rs1553950197, rs587778809, rs1578794927, rs749315686, rs868732642 View all (2 more)	RCV001353036 RCV005038169 RCV005023342 RCV005031377 RCV002496222 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly 5, primary, autosomal recessive	Pathogenic	rs1739594685	RCV002267579	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs267607235, rs2546167853, rs559155109, rs751696703	RCV002222334 RCV003388333 RCV001805096 RCV004800454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis 7	Pathogenic; Likely pathogenic	rs2148837137, rs571950296, rs953995815, rs2148839459, rs2148839960, rs2148840396, rs2148840426, rs2148873794, rs2148972564, rs1300341137, rs2148837382, rs2148943607, rs2148841537, rs2148840216, rs2148907184 View all (91 more)	RCV001358676 RCV001379020 RCV001388134 RCV001387412 RCV001388049 View all (107 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs559155109, rs868732642, rs775699005	RCV000505174 RCV004817952 RCV001074092	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs559155109	RCV000504782	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe early-childhood-onset retinal dystrophy	Likely pathogenic; Pathogenic	rs559155109	RCV000505013	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs761969307	RCV005926812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
Abnormality of the nervous system	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 7	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLN7 DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MF5D8-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MFSD8-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinosis, Recessive	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDT DISEASE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	25227500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32722525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 2	Neuronal ceroid lipofuscinosis	Pubtator	31721179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 6	Neuronal ceroid lipofuscinosis	Pubtator	28586915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 7	Neuronal ceroid lipofuscinosis	Pubtator	25333361, 30144815, 30249282, 36833170, 37742391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	UNIPROT_DG	17564970, 18850119, 19177532, 19201763, 19277732, 21990111, 22612257		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	CLINVAR_DG	17564970, 19177532, 19201763, 21990111, 25439737, 25976102, 28708303		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	BEFREE	19431184, 24423645, 25333361, 25439737, 26681805, 29514215, 30301600		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	ORPHANET_DG	21990111		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	GENOMICS_ENGLAND_DG	25227500, 27604308, 28586915		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid Lipofuscinosis, Neuronal, 7	Neuronal ceroid lipofuscinosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 8	Neuronal ceroid lipofuscinosis	BEFREE	23735787		★★★★★ ★☆☆☆☆ Found in Text Mining only
CLN7 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	31006324		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	31006324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	25227500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	28586915, 31721179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	22612257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30382371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30382371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	30382371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	34348663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	30048804		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	10191125, 18850119, 19177532, 19201763, 20406422, 20826447, 25439737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28586915, 31721179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	BEFREE	25227500		★★★★★ ★☆☆☆☆ Found in Text Mining only
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	Macular dystrophy with central cone involvement	BEFREE	25227500, 31006324		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	Macular dystrophy with central cone involvement	UNIPROT_DG	25227500		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	Macular dystrophy with central cone involvement	GENOMICS_ENGLAND_DG	25227500, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	Macular dystrophy with central cone involvement	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT	Macular dystrophy with central cone involvement	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	Pubtator	36833170	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28586915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18850119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	15024724, 15996215, 19201763, 19277732, 23386035, 24423645, 27211611, 29514215, 30144815, 30382371, 31666534, 31721179		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pick Disease of the Brain	Pica	BEFREE	30382371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	35457110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28586915, 35457110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	30543658	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	31006324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MFSD8 (major facilitator superfamily domain containing 8)