SLC12A6 (solute carrier family 12 member 6)

Gene

• Entrez ID: 9990
• Gene name: Solute carrier family 12 member 6
• Gene symbol: SLC12A6
• Synonyms (NCBI Gene): ACCPN, CMT2II, KCC3, KCC3A, KCC3B
• Chromosome: 15
• Chromosome location: 15q14
• Summary: This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35583475	G>A,T	Likely-pathogenic, likely-benign, benign	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs121908427	G>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs121908428	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs121908429	G>A	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs140916001	C>G	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs149640638	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs186141509	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, intron variant
rs199747285	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs515726215	C>-	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, splice donor variant
rs515726216	AG>C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs515726217	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs515726218	GGGAAAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs573444140	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs606231157	T>-	Pathogenic, uncertain-significance	Non coding transcript variant, frameshift variant, coding sequence variant
rs606231158	GCATCTGGGA>-	Pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs606231229	G>A	Uncertain-significance, likely-pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs762730861	C>T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs768514327	G>A	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs775111365	->AC	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057516262	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516271	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516337	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516378	C>A,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516435	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516456	G>A	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057516752	AGCTT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516898	C>T	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057516925	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057516969	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1057517109	G>-,GG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057517289	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057517334	GCTGATATAT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057518713	->G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1372841592	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555376682	A>C	Likely-pathogenic	Splice donor variant, non coding transcript variant, genic downstream transcript variant
rs1555376688	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555376818	->A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1555377252	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555377971	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1555378707	C>G	Likely-pathogenic	Splice acceptor variant
rs1555380716	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555380998	A>T	Likely-pathogenic	Splice donor variant
rs1555381538	A>C	Likely-pathogenic	Splice donor variant
rs1555384169	C>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555384171	TGTGATGGAGTTCT>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1595442984	C>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT039459	hsa-miR-652-3p	CLASH	23622248
MIRT380515	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT699474	hsa-miR-5689	HITS-CLIP	23313552
MIRT699473	hsa-miR-4795-3p	HITS-CLIP	23313552
MIRT385812	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT380515	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT699474	hsa-miR-5689	HITS-CLIP	23313552
MIRT699473	hsa-miR-4795-3p	HITS-CLIP	23313552
MIRT385812	hsa-miR-888-5p	HITS-CLIP	23824327
MIRT1352103	hsa-miR-105	CLIP-seq
MIRT1352104	hsa-miR-1281	CLIP-seq
MIRT1352105	hsa-miR-1343	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352112	hsa-miR-3671	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352127	hsa-miR-607	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352103	hsa-miR-105	CLIP-seq
MIRT1352131	hsa-miR-1265	CLIP-seq
MIRT1352104	hsa-miR-1281	CLIP-seq
MIRT1352105	hsa-miR-1343	CLIP-seq
MIRT1352132	hsa-miR-145	CLIP-seq
MIRT1352133	hsa-miR-149	CLIP-seq
MIRT1352134	hsa-miR-1825	CLIP-seq
MIRT1352135	hsa-miR-1976	CLIP-seq
MIRT1352136	hsa-miR-199a-5p	CLIP-seq
MIRT1352137	hsa-miR-199b-5p	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352139	hsa-miR-3127-5p	CLIP-seq
MIRT1352140	hsa-miR-3160-5p	CLIP-seq
MIRT1352141	hsa-miR-3180-5p	CLIP-seq
MIRT1352142	hsa-miR-3187-3p	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352143	hsa-miR-3650	CLIP-seq
MIRT1352112	hsa-miR-3671	CLIP-seq
MIRT1352144	hsa-miR-3685	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352145	hsa-miR-375	CLIP-seq
MIRT1352146	hsa-miR-384	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352147	hsa-miR-4270	CLIP-seq
MIRT1352148	hsa-miR-4284	CLIP-seq
MIRT1352149	hsa-miR-4326	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT1352151	hsa-miR-4426	CLIP-seq
MIRT1352152	hsa-miR-4435	CLIP-seq
MIRT1352153	hsa-miR-4441	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352155	hsa-miR-4533	CLIP-seq
MIRT1352156	hsa-miR-4647	CLIP-seq
MIRT1352157	hsa-miR-4662a-5p	CLIP-seq
MIRT1352158	hsa-miR-4662b	CLIP-seq
MIRT1352159	hsa-miR-4676-5p	CLIP-seq
MIRT1352160	hsa-miR-4701-5p	CLIP-seq
MIRT1352161	hsa-miR-4712-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352162	hsa-miR-4747-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352163	hsa-miR-4772-3p	CLIP-seq
MIRT1352164	hsa-miR-520f	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT1352166	hsa-miR-548s	CLIP-seq
MIRT1352167	hsa-miR-575	CLIP-seq
MIRT1352168	hsa-miR-588	CLIP-seq
MIRT1352127	hsa-miR-607	CLIP-seq
MIRT1352169	hsa-miR-770-5p	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT1352171	hsa-miR-1252	CLIP-seq
MIRT1352172	hsa-miR-1270	CLIP-seq
MIRT1352173	hsa-miR-128	CLIP-seq
MIRT1352174	hsa-miR-143	CLIP-seq
MIRT1352175	hsa-miR-146a	CLIP-seq
MIRT1352176	hsa-miR-146b-5p	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT1352178	hsa-miR-3148	CLIP-seq
MIRT1352142	hsa-miR-3187-3p	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352143	hsa-miR-3650	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT1352144	hsa-miR-3685	CLIP-seq
MIRT1352180	hsa-miR-3688-3p	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352145	hsa-miR-375	CLIP-seq
MIRT1352146	hsa-miR-384	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352181	hsa-miR-3914	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT1352182	hsa-miR-4257	CLIP-seq
MIRT1352183	hsa-miR-4273	CLIP-seq
MIRT1352148	hsa-miR-4284	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT1352185	hsa-miR-4311	CLIP-seq
MIRT1352149	hsa-miR-4326	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352152	hsa-miR-4435	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT1352188	hsa-miR-4531	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1352159	hsa-miR-4676-5p	CLIP-seq
MIRT1352189	hsa-miR-4677-5p	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT1352160	hsa-miR-4701-5p	CLIP-seq
MIRT1352191	hsa-miR-4712-3p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352192	hsa-miR-4746-3p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352193	hsa-miR-4770	CLIP-seq
MIRT1352194	hsa-miR-4792	CLIP-seq
MIRT1352195	hsa-miR-4802-3p	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352196	hsa-miR-490-3p	CLIP-seq
MIRT1352166	hsa-miR-548s	CLIP-seq
MIRT1352197	hsa-miR-563	CLIP-seq
MIRT1352167	hsa-miR-575	CLIP-seq
MIRT1352198	hsa-miR-580	CLIP-seq
MIRT1352168	hsa-miR-588	CLIP-seq
MIRT1352199	hsa-miR-589	CLIP-seq
MIRT1352200	hsa-miR-620	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1553711	hsa-miR-4652-3p	CLIP-seq
MIRT1553712	hsa-miR-3714	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1553713	hsa-miR-609	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2104318	hsa-miR-1261	CLIP-seq
MIRT2104319	hsa-miR-1273f	CLIP-seq
MIRT2104320	hsa-miR-1275	CLIP-seq
MIRT2104321	hsa-miR-1289	CLIP-seq
MIRT1352174	hsa-miR-143	CLIP-seq
MIRT2104322	hsa-miR-144	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT2104324	hsa-miR-2054	CLIP-seq
MIRT2104325	hsa-miR-2276	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2104326	hsa-miR-3145-3p	CLIP-seq
MIRT2104327	hsa-miR-3198	CLIP-seq
MIRT2104328	hsa-miR-3201	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT2104329	hsa-miR-4260	CLIP-seq
MIRT2104330	hsa-miR-4267	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT2104331	hsa-miR-4294	CLIP-seq
MIRT2104332	hsa-miR-4309	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT2104333	hsa-miR-4420	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT2104335	hsa-miR-4490	CLIP-seq
MIRT2104336	hsa-miR-4525	CLIP-seq
MIRT2104337	hsa-miR-4534	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT2104338	hsa-miR-4665-5p	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT2104339	hsa-miR-4708-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT1352193	hsa-miR-4770	CLIP-seq
MIRT2104340	hsa-miR-4774-5p	CLIP-seq
MIRT2104341	hsa-miR-4791	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT2104342	hsa-miR-642b	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT2104343	hsa-miR-4768-5p	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT2328628	hsa-miR-106a	CLIP-seq
MIRT2328629	hsa-miR-106b	CLIP-seq
MIRT2328630	hsa-miR-1193	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2328631	hsa-miR-1234	CLIP-seq
MIRT2104318	hsa-miR-1261	CLIP-seq
MIRT2104321	hsa-miR-1289	CLIP-seq
MIRT2328632	hsa-miR-1304	CLIP-seq
MIRT2328633	hsa-miR-132	CLIP-seq
MIRT2104322	hsa-miR-144	CLIP-seq
MIRT1352175	hsa-miR-146a	CLIP-seq
MIRT1352176	hsa-miR-146b-5p	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT2328634	hsa-miR-17	CLIP-seq
MIRT1352106	hsa-miR-1827	CLIP-seq
MIRT2328635	hsa-miR-1912	CLIP-seq
MIRT2328636	hsa-miR-194	CLIP-seq
MIRT2104324	hsa-miR-2054	CLIP-seq
MIRT2328637	hsa-miR-20a	CLIP-seq
MIRT2328638	hsa-miR-20b	CLIP-seq
MIRT2328639	hsa-miR-2113	CLIP-seq
MIRT2328640	hsa-miR-212	CLIP-seq
MIRT2104325	hsa-miR-2276	CLIP-seq
MIRT2328641	hsa-miR-2392	CLIP-seq
MIRT1352138	hsa-miR-24	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328642	hsa-miR-2467-5p	CLIP-seq
MIRT2328643	hsa-miR-302a	CLIP-seq
MIRT2328644	hsa-miR-302b	CLIP-seq
MIRT2328645	hsa-miR-302c	CLIP-seq
MIRT2328646	hsa-miR-302d	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT2328647	hsa-miR-3130-5p	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2104326	hsa-miR-3145-3p	CLIP-seq
MIRT2328648	hsa-miR-3149	CLIP-seq
MIRT2328649	hsa-miR-3188	CLIP-seq
MIRT2104327	hsa-miR-3198	CLIP-seq
MIRT2328650	hsa-miR-3199	CLIP-seq
MIRT2104328	hsa-miR-3201	CLIP-seq
MIRT1352109	hsa-miR-3612	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT2328651	hsa-miR-3651	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT2328652	hsa-miR-3678-3p	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT2328653	hsa-miR-372	CLIP-seq
MIRT2328654	hsa-miR-373	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352116	hsa-miR-3929	CLIP-seq
MIRT2328655	hsa-miR-3934	CLIP-seq
MIRT2328656	hsa-miR-3941	CLIP-seq
MIRT2328657	hsa-miR-3943	CLIP-seq
MIRT2328658	hsa-miR-3975	CLIP-seq
MIRT1352182	hsa-miR-4257	CLIP-seq
MIRT2328659	hsa-miR-4258	CLIP-seq
MIRT2104330	hsa-miR-4267	CLIP-seq
MIRT1352184	hsa-miR-4287	CLIP-seq
MIRT2328660	hsa-miR-4293	CLIP-seq
MIRT2104331	hsa-miR-4294	CLIP-seq
MIRT2104332	hsa-miR-4309	CLIP-seq
MIRT2328661	hsa-miR-4312	CLIP-seq
MIRT2328662	hsa-miR-4323	CLIP-seq
MIRT1352117	hsa-miR-4419b	CLIP-seq
MIRT2104333	hsa-miR-4420	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT1352154	hsa-miR-4455	CLIP-seq
MIRT1352118	hsa-miR-4459	CLIP-seq
MIRT1352187	hsa-miR-4469	CLIP-seq
MIRT1352119	hsa-miR-4478	CLIP-seq
MIRT2328663	hsa-miR-4482	CLIP-seq
MIRT2104337	hsa-miR-4534	CLIP-seq
MIRT1352120	hsa-miR-4649-3p	CLIP-seq
MIRT1553711	hsa-miR-4652-3p	CLIP-seq
MIRT2328664	hsa-miR-466	CLIP-seq
MIRT2328665	hsa-miR-4672	CLIP-seq
MIRT1352190	hsa-miR-4685-3p	CLIP-seq
MIRT1352121	hsa-miR-4695-5p	CLIP-seq
MIRT2328666	hsa-miR-4713-3p	CLIP-seq
MIRT2328667	hsa-miR-4713-5p	CLIP-seq
MIRT2328668	hsa-miR-4716-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT2328669	hsa-miR-4735-5p	CLIP-seq
MIRT1352192	hsa-miR-4746-3p	CLIP-seq
MIRT2328670	hsa-miR-4757-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352125	hsa-miR-4768-3p	CLIP-seq
MIRT2328671	hsa-miR-4775	CLIP-seq
MIRT2328672	hsa-miR-4786-5p	CLIP-seq
MIRT2104341	hsa-miR-4791	CLIP-seq
MIRT1352194	hsa-miR-4792	CLIP-seq
MIRT1352126	hsa-miR-485-5p	CLIP-seq
MIRT2328673	hsa-miR-501-3p	CLIP-seq
MIRT2328674	hsa-miR-502-3p	CLIP-seq
MIRT2328675	hsa-miR-513a-5p	CLIP-seq
MIRT2328676	hsa-miR-519d	CLIP-seq
MIRT2328677	hsa-miR-520g	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT2328678	hsa-miR-552	CLIP-seq
MIRT2328679	hsa-miR-562	CLIP-seq
MIRT1352197	hsa-miR-563	CLIP-seq
MIRT1352198	hsa-miR-580	CLIP-seq
MIRT2328680	hsa-miR-587	CLIP-seq
MIRT1352199	hsa-miR-589	CLIP-seq
MIRT2328681	hsa-miR-590-3p	CLIP-seq
MIRT2328682	hsa-miR-599	CLIP-seq
MIRT1553713	hsa-miR-609	CLIP-seq
MIRT2328683	hsa-miR-625	CLIP-seq
MIRT1352201	hsa-miR-642a	CLIP-seq
MIRT2104342	hsa-miR-642b	CLIP-seq
MIRT1352128	hsa-miR-650	CLIP-seq
MIRT1352129	hsa-miR-665	CLIP-seq
MIRT2328684	hsa-miR-767-5p	CLIP-seq
MIRT2328685	hsa-miR-93	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2394612	hsa-miR-4307	CLIP-seq
MIRT1352130	hsa-miR-940	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328628	hsa-miR-106a	CLIP-seq
MIRT2328629	hsa-miR-106b	CLIP-seq
MIRT1352170	hsa-miR-122	CLIP-seq
MIRT2328633	hsa-miR-132	CLIP-seq
MIRT2104323	hsa-miR-150	CLIP-seq
MIRT2328634	hsa-miR-17	CLIP-seq
MIRT2328636	hsa-miR-194	CLIP-seq
MIRT2690829	hsa-miR-199a-3p	CLIP-seq
MIRT2690830	hsa-miR-199b-3p	CLIP-seq
MIRT2328637	hsa-miR-20a	CLIP-seq
MIRT2328638	hsa-miR-20b	CLIP-seq
MIRT2328640	hsa-miR-212	CLIP-seq
MIRT2690831	hsa-miR-214	CLIP-seq
MIRT1352107	hsa-miR-2467-3p	CLIP-seq
MIRT2328643	hsa-miR-302a	CLIP-seq
MIRT2328644	hsa-miR-302b	CLIP-seq
MIRT2328645	hsa-miR-302c	CLIP-seq
MIRT2328646	hsa-miR-302d	CLIP-seq
MIRT1352108	hsa-miR-3122	CLIP-seq
MIRT2690832	hsa-miR-3123	CLIP-seq
MIRT2690833	hsa-miR-3126-3p	CLIP-seq
MIRT2690834	hsa-miR-3129-5p	CLIP-seq
MIRT1352177	hsa-miR-3135b	CLIP-seq
MIRT2690835	hsa-miR-3136-5p	CLIP-seq
MIRT2328648	hsa-miR-3149	CLIP-seq
MIRT2690836	hsa-miR-3176	CLIP-seq
MIRT2690837	hsa-miR-329	CLIP-seq
MIRT2690838	hsa-miR-3619-5p	CLIP-seq
MIRT1352110	hsa-miR-3622a-3p	CLIP-seq
MIRT1352111	hsa-miR-3622b-3p	CLIP-seq
MIRT2690839	hsa-miR-362-3p	CLIP-seq
MIRT2690840	hsa-miR-3647-3p	CLIP-seq
MIRT1352179	hsa-miR-3652	CLIP-seq
MIRT2690841	hsa-miR-3658	CLIP-seq
MIRT1352113	hsa-miR-3689a-3p	CLIP-seq
MIRT1352114	hsa-miR-3689c	CLIP-seq
MIRT1553712	hsa-miR-3714	CLIP-seq
MIRT2328653	hsa-miR-372	CLIP-seq
MIRT2328654	hsa-miR-373	CLIP-seq
MIRT1352115	hsa-miR-3913-5p	CLIP-seq
MIRT2690842	hsa-miR-3922-3p	CLIP-seq
MIRT2690843	hsa-miR-3925-5p	CLIP-seq
MIRT2328656	hsa-miR-3941	CLIP-seq
MIRT2690844	hsa-miR-4291	CLIP-seq
MIRT2690845	hsa-miR-4305	CLIP-seq
MIRT1352150	hsa-miR-4328	CLIP-seq
MIRT2104334	hsa-miR-4425	CLIP-seq
MIRT1352186	hsa-miR-4430	CLIP-seq
MIRT2690846	hsa-miR-4439	CLIP-seq
MIRT2690847	hsa-miR-4493	CLIP-seq
MIRT2690848	hsa-miR-450b-3p	CLIP-seq
MIRT2690849	hsa-miR-4643	CLIP-seq
MIRT2690850	hsa-miR-4662a-3p	CLIP-seq
MIRT2690851	hsa-miR-4684-5p	CLIP-seq
MIRT2328666	hsa-miR-4713-3p	CLIP-seq
MIRT2328668	hsa-miR-4716-5p	CLIP-seq
MIRT1352122	hsa-miR-4722-5p	CLIP-seq
MIRT2690852	hsa-miR-4724-5p	CLIP-seq
MIRT1352123	hsa-miR-4728-5p	CLIP-seq
MIRT2328669	hsa-miR-4735-5p	CLIP-seq
MIRT1352124	hsa-miR-4767	CLIP-seq
MIRT2328671	hsa-miR-4775	CLIP-seq
MIRT2328672	hsa-miR-4786-5p	CLIP-seq
MIRT2690853	hsa-miR-4789-3p	CLIP-seq
MIRT2690854	hsa-miR-488	CLIP-seq
MIRT2328673	hsa-miR-501-3p	CLIP-seq
MIRT2328674	hsa-miR-502-3p	CLIP-seq
MIRT2328675	hsa-miR-513a-5p	CLIP-seq
MIRT2328676	hsa-miR-519d	CLIP-seq
MIRT2328677	hsa-miR-520g	CLIP-seq
MIRT1352165	hsa-miR-544b	CLIP-seq
MIRT2328680	hsa-miR-587	CLIP-seq
MIRT2328681	hsa-miR-590-3p	CLIP-seq
MIRT2690855	hsa-miR-603	CLIP-seq
MIRT2690856	hsa-miR-638	CLIP-seq
MIRT2690857	hsa-miR-761	CLIP-seq
MIRT2690858	hsa-miR-767-3p	CLIP-seq
MIRT2328684	hsa-miR-767-5p	CLIP-seq
MIRT2690859	hsa-miR-769-3p	CLIP-seq
MIRT2690860	hsa-miR-922	CLIP-seq
MIRT2328685	hsa-miR-93	CLIP-seq
MIRT2690861	hsa-miR-936	CLIP-seq
MIRT2690862	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	NAS	10187864
GO:0005515	Function	Protein binding	IPI	24655550
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19665974
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IDA	10187864
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0006884	Process	Cell volume homeostasis	IDA	19665974
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0015079	Function	Potassium ion transmembrane transporter activity	IDA	24393035
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	IBA
GO:0015379	Function	Potassium:chloride symporter activity	IDA	10187864, 10600773, 11551954, 12657561, 16048901, 19665974, 34031912
GO:0015379	Function	Potassium:chloride symporter activity	IEA
GO:0015379	Function	Potassium:chloride symporter activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10187864
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	24393035
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055064	Process	Chloride ion homeostasis	IEA
GO:0055064	Process	Chloride ion homeostasis	ISS
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055075	Process	Potassium ion homeostasis	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071476	Process	Cellular hypotonic response	IMP	24393035
GO:0071477	Process	Cellular hypotonic salinity response	IDA	16048901
GO:0071805	Process	Potassium ion transmembrane transport	IDA	11551954, 19665974
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	12657561, 24393035

Other IDs

• MIM: 604878
• HGNC: 10914
• e!Ensembl: ENSG00000140199

Protein

• UniProt ID: Q9UHW9
• Protein name: Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3)
• Protein function: [Isoform 1]: Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:10600773, PubMed:11551954, PubMed:16048901, PubMed:18566107, PubMed:19665974, PubMed:21628467, PubMed:27485015). May contribute to cell v
• PDB: 6M1Y, 6M22, 6Y5R, 6Y5V, 7AIN, 7AIO, 7D90, 7NGB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00324	AA_permease	190 → 384	Amino acid permease	Family
  PF00324	AA_permease	456 → 761	Amino acid permease	Family
  PF03522	SLC12	773 → 897	Solute carrier family 12	Family
  PF03522	SLC12	893 → 1150	Solute carrier family 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain (at protein level) (PubMed:21628467). Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas (PubMed:10600773). Detected in umbilical vein endothelial ce
• Sequence:

  MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPM
  SEMSGATTSLATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNS
  NYEEGDEYFDKNLALFEEEMDTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPT
  KTPQMGTFMGVYLPCLQNIFGVILFLRLTWVVGTAGVLQAFAIVLICCCCTMLTAISMSA
  IATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAAAMYILGAIEIFLVYIVPRAA
  IFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLACVIVSILAIYA
  GAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC
  DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVD
  ITTSFTLLVGIFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGA
  CIEGVVLRDKFGDAVKGNLVVGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAK
  DNIIPFLRVFGHSKANGEPTWALLLTAAIAELGILIASLDLVAPILSMFFLMCYLFVNLA
  CALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSWYYAIVAMVIAGMIYKYIEYQ
  GAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKHPRLLTFA
  SQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS
  HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFP
  SNVEQFSEGNIDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDL
  ATFLYHLRIEAEVEVVEMHDSDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKD
  RNSMLRLTSIGSDEDEETETYQEKVHMTWTKDKYMASRGQKAKSMEGFQDLLNMRPDQSN
  VRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDENYMEFLEVLTEGLERVLLVRG
  GGSEVITIYS

• Sequence length: 1150

Pathways

Reactome:

Cation-coupled Chloride cotransporters
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)

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
Abnormal facial shape	Likely pathogenic; Pathogenic	rs1555380716	RCV000626992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Agenesis of the corpus callosum with peripheral neuropathy	Likely pathogenic; Pathogenic	rs751184319, rs1892451015, rs1184523433, rs897661402, rs776790336, rs2140726249, rs515726216, rs515726217, rs515726218, rs2140641550, rs752155450, rs199747285, rs2509775205, rs2509746048, rs1057517109, rs2509782397, rs2509761052, rs2509847354, rs2509816956, rs2509745923, rs2509846598, rs2529610489, rs2509837476, rs1566799570, rs2509802682, rs1182209513, rs2509809254, rs2509743370, rs2509753342, rs2509832995, rs2509756420, rs2509764027, rs2509767492, rs2509783000, rs2509761962, rs2509837404, rs2509749812, rs2509832966, rs2509817001, rs2509803879, rs2509764019, rs2509775026, rs2509808876, rs2509817015, rs775111365, rs121908427, rs121908428, rs606231157, rs606231158, rs1416593064, rs2509782416, rs2509756073, rs2509804375, rs2509756451, rs2509809229, rs2509753562, rs2509817534, rs2509739366, rs2509756088, rs2509756316, rs2509764036, rs2509893610, rs2509764361, rs2509745881, rs771726260, rs2509745854, rs2509846608, rs2509779896, rs2509817358, rs1890198564, rs1162530361, rs1892451403, rs2509761843, rs2509761252, rs2509749845, rs2509832801, rs2509742940, rs2509893598, rs2509743158, rs2479950418, rs2509767248, rs2509753178, rs2510085199, rs752558011, rs762730861, rs2509743391, rs2509808694, rs2509756403, rs2509756006, rs1891170502, rs2509821769, rs916571899, rs2509821779, rs2509780649, rs2510085305, rs2509816766, rs1057516752, rs1057516969, rs1057517289, rs1057517334, rs1057516262, rs1057516378, rs1057516925, rs1057516337, rs1057516435, rs1057516271, rs35583475, rs1057516456, rs1057516898, rs573444140, rs1057518713, rs606231229, rs515726215, rs1555384171, rs1555377252, rs1555377971, rs1372841592, rs1555380998, rs1555376688, rs768514327, rs1555376818, rs1555381538, rs1555384169, rs1555376682, rs1555378707, rs1595442984, rs1054429141, rs1462170681	RCV001331364 RCV001331365 RCV003473927 RCV003473989 RCV001810045 RCV002250428 RCV000123392 RCV000123393 RCV000123394 RCV002563623 RCV002260549 RCV000147487 RCV002281814 RCV004801189 RCV002306465 RCV002306563 RCV002306670 RCV002306780 RCV002306815 RCV002309551 RCV002309623 RCV002309864 RCV002309958 RCV002310002 RCV002307914 RCV002308053 RCV002308126 RCV002308127 RCV002308305 RCV002308379 RCV002309309 RCV002309323 RCV002309368 RCV002309523 RCV002307133 RCV002307185 RCV002307200 RCV002307298 RCV002310192 RCV002310342 RCV002310345 RCV002310425 RCV002310450 RCV002310508 RCV002308460 RCV000169349 RCV000005652 RCV000005653 RCV000005656 RCV000005658 RCV003475421 RCV003230845 RCV003472725 RCV003472726 RCV003472727 RCV003472728 RCV003472730 RCV003472731 RCV003472732 RCV003472733 RCV003472734 RCV003472735 RCV003472736 RCV003472737 RCV003472738 RCV003472739 RCV003472740 RCV003472741 RCV003472742 RCV003472743 RCV003472744 RCV003472745 RCV003472746 RCV003472747 RCV003472748 RCV003472749 RCV003472750 RCV003472751 RCV003472752 RCV003472753 RCV003472754 RCV003472755 RCV003472756 RCV004574127 RCV004573245 RCV004573590 RCV004573591 RCV004573593 RCV004573594 RCV004573595 RCV004573596 RCV004573597 RCV004573598 RCV004573599 RCV004573600 RCV004573601 RCV004573602 RCV000409972 RCV000412065 RCV000408984 RCV000409518 RCV000409483 RCV000410487 RCV000409353 RCV000412124 RCV000410684 RCV000412042 RCV000409503 RCV000412092 RCV000409555 RCV000409680 RCV000411505 RCV000411830 RCV000409255 RCV000415112 RCV000023393 RCV000499636 RCV000667819 RCV000665600 RCV000671644 RCV000672572 RCV000666234 RCV000674726 RCV000670221 RCV000667490 RCV000666946 RCV000671052 RCV000674008 RCV000670193 RCV001004403 RCV003473615 RCV001330022	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs606231157, rs606231158, rs762730861, rs606231229, rs515726215, rs1595430425	RCV000790224 RCV000790221 RCV000789681 RCV000790222 RCV000790219 RCV000790220	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, axonal, IIa 2II	Likely pathogenic; Pathogenic	rs2140693876, rs2140682156, rs199747285, rs2509746048, rs2509820987, rs121908427, rs1416593064, rs1162530361, rs1057516969, rs1057516337, rs515726215, rs1555381416, rs768514327, rs1054429141, rs1462170681	RCV004801051 RCV002287901 RCV005008055 RCV002287912 RCV002287913 RCV002287915 RCV005007826 RCV005008754 RCV005012973 RCV005010292 RCV005010290 RCV005010437 RCV002287895 RCV005010663 RCV005012462 RCV005005078	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clinodactyly of the 5th finger	Likely pathogenic; Pathogenic	rs1555380716	RCV000626992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs1555380716	RCV000626992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertelorism	Likely pathogenic; Pathogenic	rs1555380716	RCV000626992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Low-set ears	Likely pathogenic; Pathogenic	rs1555380716	RCV000626992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs515726215	RCV005869528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Likely pathogenic; Pathogenic	rs2140693094, rs2140693876	RCV001814485 RCV002255113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC12A6-related disorder	Likely pathogenic; Pathogenic	rs1292460656, rs121908428, rs515726215, rs1555376688	RCV003418254 RCV004730835 RCV004752923 RCV003403566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1C	Likely pathogenic; Pathogenic	rs1462170681	RCV005861212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive axonal hereditary motor and sensory neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM AGENESIS NEURONOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	12107814, 12368912, 20352446		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	16098236, 31439721, 35733399, 36542484	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aqueductal Stenosis	Aqueductal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	18536702		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18536702		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	GWASCAT_DG	29551738		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	29551738	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	18024369	Stimulate	★☆☆☆☆ Found in Text Mining only
Beta thalassemia intermedia	beta Thalassemia	BEFREE	31835175		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	16098236, 18536702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16098236, 17239033, 18536702		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16098236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17133354		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	35733399	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24655550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	24655550		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	35733399	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	31393094		★☆☆☆☆ Found in Text Mining only
Corpus callosum agenesis neuronopathy	Corpus Callosum Agenesis Neuronopathy	BEFREE	12368912, 16606917, 17893295, 18536702, 18566107, 20352446, 21628467, 28647557, 28814402, 30868738, 31160700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum agenesis neuronopathy	Corpus Callosum Agenesis Neuronopathy	CLINVAR_DG	12368912, 12838516, 16606917, 17893295, 18566107, 20020398, 21628467, 22462673, 24341143, 25525159, 26392352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum agenesis neuronopathy	Corpus Callosum Agenesis Neuronopathy	GENOMICS_ENGLAND_DG	12368912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum agenesis neuronopathy	Corpus callosum agenesis neuronopathy syndrome	Pubtator	16098236, 34706912	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum agenesis neuronopathy	Corpus Callosum Agenesis Neuronopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corpus callosum agenesis-neuronopathy syndrome	Corpus Callosum Agenesis-Neuronopathy Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	31439721	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	27230413, 31439721, 34706912	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20352446		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35733399	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	11325574		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25110711	Associate	★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy Autosomal Dominant	Giant axonal neuropathy	Pubtator	36542484	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	20020398, 28814402		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	31439721, 35733399, 36542484	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	14532115		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	11325574, 18536702		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35733399, 36542484	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	10187864		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17133354		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24655550		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17133354		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	27230413	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy Juvenile	Myoclonic epilepsy	Pubtator	10187864	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24655550		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31439721, 34706912	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	26142773, 31160700		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27230413	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21628467		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31165006		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	27485015		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11826289, 12368912, 27485015, 29366908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	16098236, 35733399, 36542484, 8554065	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	21245421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12368912, 27485015, 29366908		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathies	Polyneuropathy	Pubtator	36542484	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	18536702		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16098236, 17239033, 18536702		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	16098236	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	12107814		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16682547		★☆☆☆☆ Found in Text Mining only