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	91147
Gene name	Transmembrane protein 67
Gene symbol	TMEM67
Synonyms (NCBI Gene)	JBTS6MECKELINMKS3NPHP11TNEM67
Chromosome	8
Chromosome location	8q22.1
Summary	The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms hav

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34779331	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs35765535	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs111619594	A>T	Benign, conflicting-interpretations-of-pathogenicity, risk-factor, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs111991507	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs115563233	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs115640152	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs116445698	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs116647652	C>A,T	Likely-benign, pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs137853106	A>C	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs137853107	A>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs137853108	A>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs145236803	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs148726767	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199821258	T>G	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs201893408	T>A,C	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs202149403	T>C,G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs267607114	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607115	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607116	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs267607117	G>T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs267607118	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs267607119	T>C	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs375824494	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs386834180	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs386834181	G>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
rs386834182	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834183	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834184	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834185	G>C,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs386834186	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834187	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs386834188	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs386834189	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834190	A>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs386834191	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834192	->T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs386834193	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386834194	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834195	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834196	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386834197	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834198	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386834199	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386834200	AC>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs386834201	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant, 5 prime UTR variant
rs386834202	AG>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834203	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834204	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386834205	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs386834206	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs386834207	A>G	Pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs386834208	G>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587779736	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs749435317	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs750950408	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs751309268	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs751517725	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs752362727	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756686115	G>C	Pathogenic	Intron variant
rs758948621	A>C	Pathogenic	Splice acceptor variant
rs762543032	C>T	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs765468645	C>T	Likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs769957689	C>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs771551765	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs772437766	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, intron variant, coding sequence variant
rs775256658	A>G	Pathogenic	Intron variant
rs775883520	A>G	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs786200867	G>T	Pathogenic	Splice donor variant
rs786200868	G>A	Pathogenic	Intron variant
rs786205126	CTT>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs786205592	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs786205608	A>G	Pathogenic	Splice acceptor variant
rs797046045	G>T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs863225224	A>G	Pathogenic	Intron variant
rs863225225	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225226	C>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs863225227	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225228	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225229	A>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225230	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225231	C>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225232	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225233	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225234	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225235	C>A	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs863225236	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225237	G>A,C,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant
rs863225238	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs863225239	G>A	Likely-pathogenic	Intron variant
rs863225240	G>-	Likely-pathogenic	Intron variant
rs886039810	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs967792092	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064792983	ATGAGTAATGTAA>GG	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1064794003	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1064795843	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1554555063	G>A	Likely-pathogenic	Intron variant
rs1554557920	TGAGTAATGTAA>G	Pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1554558363	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554558365	->TATGAA	Likely-pathogenic	Coding sequence variant, inframe insertion, non coding transcript variant
rs1554614771	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1554615516	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1563672487	T>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1586051330	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1586074742	->CAGTGTCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1586336362	T>G	Likely-pathogenic	Intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT712867	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT712866	hsa-miR-8069	HITS-CLIP	19536157
MIRT712865	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT712864	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT712863	hsa-miR-563	HITS-CLIP	19536157
MIRT712862	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT712861	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT712860	hsa-miR-4452	HITS-CLIP	19536157
MIRT652372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652371	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT652370	hsa-miR-3612	HITS-CLIP	23824327
MIRT652369	hsa-miR-650	HITS-CLIP	23824327
MIRT652367	hsa-miR-7977	HITS-CLIP	23824327
MIRT652368	hsa-miR-4443	HITS-CLIP	23824327
MIRT652366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT652365	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT533706	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533704	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT533705	hsa-miR-1208	PAR-CLIP	22012620
MIRT533703	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT533702	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT533701	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT533700	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT533699	hsa-miR-4697-3p	PAR-CLIP	22012620
MIRT533698	hsa-miR-223-3p	PAR-CLIP	22012620
MIRT533697	hsa-miR-4775	PAR-CLIP	22012620
MIRT533695	hsa-miR-6878-3p	PAR-CLIP	22012620
MIRT533696	hsa-miR-4512	PAR-CLIP	22012620
MIRT496632	hsa-miR-217	PAR-CLIP	22291592
MIRT496631	hsa-miR-6807-3p	PAR-CLIP	22291592
MIRT496630	hsa-miR-8063	PAR-CLIP	22291592
MIRT496629	hsa-miR-1273g-3p	PAR-CLIP	22291592
MIRT496628	hsa-miR-20a-3p	PAR-CLIP	22291592
MIRT496627	hsa-miR-4481	PAR-CLIP	22291592
MIRT496626	hsa-miR-4745-5p	PAR-CLIP	22291592
MIRT496625	hsa-miR-4252	PAR-CLIP	22291592
MIRT496624	hsa-miR-3926	PAR-CLIP	22291592
MIRT496623	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT496622	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT496621	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT496620	hsa-miR-1227-3p	PAR-CLIP	22291592
MIRT439424	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439423	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439424	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726283	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726284	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726282	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726281	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439423	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT712867	hsa-miR-758-5p	HITS-CLIP	19536157
MIRT712866	hsa-miR-8069	HITS-CLIP	19536157
MIRT712865	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT712864	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT712863	hsa-miR-563	HITS-CLIP	19536157
MIRT712862	hsa-miR-5007-3p	HITS-CLIP	19536157
MIRT712861	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT712860	hsa-miR-4452	HITS-CLIP	19536157
MIRT652372	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT652371	hsa-miR-6730-3p	HITS-CLIP	23824327
MIRT652370	hsa-miR-3612	HITS-CLIP	23824327
MIRT652369	hsa-miR-650	HITS-CLIP	23824327
MIRT652367	hsa-miR-7977	HITS-CLIP	23824327
MIRT652368	hsa-miR-4443	HITS-CLIP	23824327
MIRT652366	hsa-miR-6515-5p	HITS-CLIP	23824327
MIRT652365	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT533706	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT533704	hsa-miR-6760-3p	PAR-CLIP	22012620
MIRT533705	hsa-miR-1208	PAR-CLIP	22012620
MIRT533703	hsa-miR-16-1-3p	PAR-CLIP	22012620
MIRT533702	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT533701	hsa-miR-4757-5p	PAR-CLIP	22012620
MIRT533700	hsa-miR-6744-3p	PAR-CLIP	22012620
MIRT533699	hsa-miR-4697-3p	PAR-CLIP	22012620
MIRT533698	hsa-miR-223-3p	PAR-CLIP	22012620
MIRT533697	hsa-miR-4775	PAR-CLIP	22012620
MIRT533695	hsa-miR-6878-3p	PAR-CLIP	22012620
MIRT533696	hsa-miR-4512	PAR-CLIP	22012620
MIRT496632	hsa-miR-217	PAR-CLIP	22291592
MIRT496631	hsa-miR-6807-3p	PAR-CLIP	22291592
MIRT496630	hsa-miR-8063	PAR-CLIP	22291592
MIRT496629	hsa-miR-1273g-3p	PAR-CLIP	22291592
MIRT496628	hsa-miR-20a-3p	PAR-CLIP	22291592
MIRT496627	hsa-miR-4481	PAR-CLIP	22291592
MIRT496626	hsa-miR-4745-5p	PAR-CLIP	22291592
MIRT496625	hsa-miR-4252	PAR-CLIP	22291592
MIRT496624	hsa-miR-3926	PAR-CLIP	22291592
MIRT496623	hsa-miR-4640-5p	PAR-CLIP	22291592
MIRT496622	hsa-miR-4726-5p	PAR-CLIP	22291592
MIRT496621	hsa-miR-6508-3p	PAR-CLIP	22291592
MIRT496620	hsa-miR-1227-3p	PAR-CLIP	22291592
MIRT1438904	hsa-miR-2276	CLIP-seq
MIRT1438905	hsa-miR-300	CLIP-seq
MIRT1438906	hsa-miR-3163	CLIP-seq
MIRT1438907	hsa-miR-323-3p	CLIP-seq
MIRT1438908	hsa-miR-340	CLIP-seq
MIRT1438909	hsa-miR-381	CLIP-seq
MIRT1438910	hsa-miR-3938	CLIP-seq
MIRT1438911	hsa-miR-4666-3p	CLIP-seq
MIRT1438912	hsa-miR-4772-3p	CLIP-seq
MIRT1438913	hsa-miR-494	CLIP-seq
MIRT1438914	hsa-miR-520d-5p	CLIP-seq
MIRT1438915	hsa-miR-524-5p	CLIP-seq
MIRT1438916	hsa-miR-544	CLIP-seq
MIRT1438917	hsa-miR-548c-3p	CLIP-seq
MIRT1438918	hsa-miR-101	CLIP-seq
MIRT1438919	hsa-miR-1273f	CLIP-seq
MIRT1438920	hsa-miR-144	CLIP-seq
MIRT1438921	hsa-miR-2116	CLIP-seq
MIRT1438922	hsa-miR-3143	CLIP-seq
MIRT1438923	hsa-miR-3170	CLIP-seq
MIRT1438924	hsa-miR-3187-3p	CLIP-seq
MIRT1438925	hsa-miR-3941	CLIP-seq
MIRT1438926	hsa-miR-4310	CLIP-seq
MIRT1438927	hsa-miR-4435	CLIP-seq
MIRT1438928	hsa-miR-466	CLIP-seq
MIRT1438929	hsa-miR-4672	CLIP-seq
MIRT1438930	hsa-miR-4677-5p	CLIP-seq
MIRT1438931	hsa-miR-4687-3p	CLIP-seq
MIRT1438932	hsa-miR-4699-3p	CLIP-seq
MIRT1438933	hsa-miR-4701-5p	CLIP-seq
MIRT1438934	hsa-miR-4716-5p	CLIP-seq
MIRT1438935	hsa-miR-4755-3p	CLIP-seq
MIRT1438936	hsa-miR-4781-3p	CLIP-seq
MIRT1438937	hsa-miR-4789-5p	CLIP-seq
MIRT1438938	hsa-miR-548s	CLIP-seq
MIRT1438939	hsa-miR-587	CLIP-seq
MIRT1438940	hsa-miR-588	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2131454	hsa-miR-129-5p	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352706	hsa-miR-106a	CLIP-seq
MIRT2352707	hsa-miR-106b	CLIP-seq
MIRT2352708	hsa-miR-17	CLIP-seq
MIRT2352709	hsa-miR-20a	CLIP-seq
MIRT2352710	hsa-miR-20b	CLIP-seq
MIRT1438921	hsa-miR-2116	CLIP-seq
MIRT2352711	hsa-miR-302a	CLIP-seq
MIRT2352712	hsa-miR-302b	CLIP-seq
MIRT2352713	hsa-miR-302c	CLIP-seq
MIRT2352714	hsa-miR-302d	CLIP-seq
MIRT2352715	hsa-miR-302e	CLIP-seq
MIRT1438924	hsa-miR-3187-3p	CLIP-seq
MIRT2352716	hsa-miR-3545-3p	CLIP-seq
MIRT2352717	hsa-miR-372	CLIP-seq
MIRT2352718	hsa-miR-373	CLIP-seq
MIRT2352719	hsa-miR-4297	CLIP-seq
MIRT1438927	hsa-miR-4435	CLIP-seq
MIRT2352720	hsa-miR-4635	CLIP-seq
MIRT1438930	hsa-miR-4677-5p	CLIP-seq
MIRT2352721	hsa-miR-4680-5p	CLIP-seq
MIRT1438931	hsa-miR-4687-3p	CLIP-seq
MIRT1438933	hsa-miR-4701-5p	CLIP-seq
MIRT2352722	hsa-miR-4731-5p	CLIP-seq
MIRT1438935	hsa-miR-4755-3p	CLIP-seq
MIRT1438936	hsa-miR-4781-3p	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq
MIRT2352724	hsa-miR-512-3p	CLIP-seq
MIRT2352725	hsa-miR-519d	CLIP-seq
MIRT2352726	hsa-miR-520a-3p	CLIP-seq
MIRT2352727	hsa-miR-520b	CLIP-seq
MIRT2352728	hsa-miR-520c-3p	CLIP-seq
MIRT2352729	hsa-miR-520d-3p	CLIP-seq
MIRT2352730	hsa-miR-520e	CLIP-seq
MIRT2352731	hsa-miR-520g	CLIP-seq
MIRT2352732	hsa-miR-520h	CLIP-seq
MIRT2352733	hsa-miR-526b	CLIP-seq
MIRT1438938	hsa-miR-548s	CLIP-seq
MIRT1438940	hsa-miR-588	CLIP-seq
MIRT2352734	hsa-miR-93	CLIP-seq
MIRT2352735	hsa-miR-149	CLIP-seq
MIRT2352736	hsa-miR-24	CLIP-seq
MIRT2352737	hsa-miR-3126-3p	CLIP-seq
MIRT2352738	hsa-miR-3127-5p	CLIP-seq
MIRT2352739	hsa-miR-4284	CLIP-seq
MIRT2352740	hsa-miR-4794	CLIP-seq
MIRT2352706	hsa-miR-106a	CLIP-seq
MIRT2352707	hsa-miR-106b	CLIP-seq
MIRT2352708	hsa-miR-17	CLIP-seq
MIRT2352709	hsa-miR-20a	CLIP-seq
MIRT2352710	hsa-miR-20b	CLIP-seq
MIRT2352711	hsa-miR-302a	CLIP-seq
MIRT2352712	hsa-miR-302b	CLIP-seq
MIRT2352713	hsa-miR-302c	CLIP-seq
MIRT2352714	hsa-miR-302d	CLIP-seq
MIRT2352715	hsa-miR-302e	CLIP-seq
MIRT2352717	hsa-miR-372	CLIP-seq
MIRT2352718	hsa-miR-373	CLIP-seq
MIRT2352719	hsa-miR-4297	CLIP-seq
MIRT2396051	hsa-miR-4312	CLIP-seq
MIRT2396052	hsa-miR-4438	CLIP-seq
MIRT2352722	hsa-miR-4731-5p	CLIP-seq
MIRT2396053	hsa-miR-5095	CLIP-seq
MIRT2352724	hsa-miR-512-3p	CLIP-seq
MIRT2352725	hsa-miR-519d	CLIP-seq
MIRT2352726	hsa-miR-520a-3p	CLIP-seq
MIRT2352727	hsa-miR-520b	CLIP-seq
MIRT2352728	hsa-miR-520c-3p	CLIP-seq
MIRT2352729	hsa-miR-520d-3p	CLIP-seq
MIRT2352730	hsa-miR-520e	CLIP-seq
MIRT2352731	hsa-miR-520g	CLIP-seq
MIRT2352732	hsa-miR-520h	CLIP-seq
MIRT2352734	hsa-miR-93	CLIP-seq
MIRT2646370	hsa-miR-1182	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2646371	hsa-miR-1255a	CLIP-seq
MIRT2646372	hsa-miR-1255b	CLIP-seq
MIRT2646373	hsa-miR-1322	CLIP-seq
MIRT2646374	hsa-miR-193a-5p	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2646375	hsa-miR-3194-3p	CLIP-seq
MIRT2646376	hsa-miR-3605-5p	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2646377	hsa-miR-369-3p	CLIP-seq
MIRT2646378	hsa-miR-374c	CLIP-seq
MIRT2646379	hsa-miR-3907	CLIP-seq
MIRT2646380	hsa-miR-3942-5p	CLIP-seq
MIRT2646381	hsa-miR-4263	CLIP-seq
MIRT2646382	hsa-miR-4282	CLIP-seq
MIRT2646383	hsa-miR-431	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT1438911	hsa-miR-4666-3p	CLIP-seq
MIRT2646384	hsa-miR-4703-5p	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq
MIRT2646385	hsa-miR-513a-3p	CLIP-seq
MIRT2646386	hsa-miR-545	CLIP-seq
MIRT2646387	hsa-miR-576-5p	CLIP-seq
MIRT2646388	hsa-miR-583	CLIP-seq
MIRT2646389	hsa-miR-655	CLIP-seq
MIRT2646370	hsa-miR-1182	CLIP-seq
MIRT2131453	hsa-miR-122	CLIP-seq
MIRT2352735	hsa-miR-149	CLIP-seq
MIRT2646374	hsa-miR-193a-5p	CLIP-seq
MIRT2352736	hsa-miR-24	CLIP-seq
MIRT2131455	hsa-miR-3064-5p	CLIP-seq
MIRT2352737	hsa-miR-3126-3p	CLIP-seq
MIRT2131456	hsa-miR-3135b	CLIP-seq
MIRT2646375	hsa-miR-3194-3p	CLIP-seq
MIRT2131457	hsa-miR-3652	CLIP-seq
MIRT2646379	hsa-miR-3907	CLIP-seq
MIRT2352739	hsa-miR-4284	CLIP-seq
MIRT2646383	hsa-miR-431	CLIP-seq
MIRT2131458	hsa-miR-4430	CLIP-seq
MIRT2131459	hsa-miR-4505	CLIP-seq
MIRT2131460	hsa-miR-4793-5p	CLIP-seq
MIRT2352740	hsa-miR-4794	CLIP-seq
MIRT2352723	hsa-miR-498	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17185389, 19815549, 26035863, 32814053, 34731008, 35137054
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19815549
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005813	Component	Centrosome	IDA	17185389
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0010826	Process	Negative regulation of centrosome duplication	IMP	19515853
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IDA	19815549
GO:0031005	Function	Filamin binding	IPI	22121117
GO:0035567	Process	Non-canonical Wnt signaling pathway	IMP	34964473
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0036503	Process	ERAD pathway	IMP	19815549
GO:0042995	Component	Cell projection	IEA
GO:0051082	Function	Unfolded protein binding	IPI	19815549
GO:0060170	Component	Ciliary membrane	IDA	17185389
GO:0060170	Component	Ciliary membrane	TAS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	19515853
GO:0060271	Process	Cilium assembly	ISS

MIM	HGNC	e!Ensembl
609884	28396	ENSG00000164953

Q5HYA8

Protein name

Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67)

Protein function

Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell

PDB

7FH1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09773	Meckelin	167 → 995	Meckelin (Transmembrane protein 67)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. {ECO:0000269|PubMed:16415887, ECO:0000269|PubMed:17185389}.

Sequence

MATRGGAGVAMAVWSLLSARAVTAFLLLFLPRFLQAQTFSFPFQQPEKCDNNQYFDISAL
SCVPCGANQRQDARGTSCVCLPGFQMISNNGGPAIICKKCPENMKGVTEDGWNCISCPSD
LTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNT
SRSCACSEPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVY
ANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFENTAGLSTVHSISFWRQNLPWLFYG
DQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDT
ETRLNAAYSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNL
QHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGTQPRVIRVATQISLSVHLVPNTIN
GNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASL
LKTAGWKRRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLL
PMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVFFIDWERPKGKVLKAVEGEGGVRS
ATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNP
PSYIAPYSCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLL
SHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLCSQRGLVPNTDGQTFEIAISNQMR
QHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKL
LLERILGMEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILA
SFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI

Sequence length

995

Interactions

View interactions

	Reactome
			Anchoring of the basal body to the plasma membrane

2494

Show/Hide Causal Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs775883520	RCV001814102
Anhydramnios	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs749435317	RCV000490354
Bardet-Biedl syndrome 14	Likely pathogenic; Pathogenic	rs201893408	RCV000763610
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002
Cholangiocarcinoma	Likely pathogenic; Pathogenic	rs768412278	RCV005930085
COACH syndrome 1	Likely pathogenic; Pathogenic	rs137853107, rs758948621, rs267607119, rs786200867, rs786200868, rs267607115, rs201893408, rs757204749, rs775883520, rs751517725, rs749435317, rs1554615516, rs386834190	RCV000001437 RCV000001441 RCV000001445 RCV000001447 RCV000001448 RCV000001449 RCV000763610 RCV002468952 RCV002283466 RCV005860035 RCV000490354 RCV005860388 RCV000655938 RCV005357429
Enlarged kidney	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679
Familial cancer of breast	Likely pathogenic; Pathogenic	rs768412278	RCV005930083
Generalized hypotonia	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002
Iris coloboma	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002
Joubert syndrome	Likely pathogenic; Pathogenic	rs2130690833, rs150332116, rs2130735817, rs201791586, rs1563458773, rs587779736, rs2130735328, rs2130528812, rs115195998, rs2130719298, rs1211156516, rs863225238, rs2130664400, rs2130719312, rs149475825 View all (102 more)	RCV001387503 RCV001384718 RCV001386357 RCV002538533 RCV001885192 RCV002514565 RCV005213597 RCV001927395 RCV001939456 RCV001889476 RCV002047102 RCV001971095 RCV001946055 RCV002037856 RCV002035252 RCV001942012 RCV001942030 RCV001920653 RCV001986645 RCV001900622 RCV001888645 RCV001949607 RCV002039875 RCV001851544 RCV002512641 RCV002512642 RCV000468558 RCV000821785 RCV001388801 RCV001851546 RCV000415055 RCV001851547 RCV001389251 RCV003774755 RCV003099119 RCV003061040 RCV003053038 RCV003081750 RCV002588632 RCV002625011 RCV003775563 RCV003775564 RCV002755210 RCV002821033 RCV002833175 RCV002857061 RCV002894619 RCV000198666 RCV003765305 RCV002517316 RCV005222828 RCV000636949 RCV001853243 RCV002515477 RCV003018654 RCV003026877 RCV003051786 RCV003044661 RCV003066098 RCV000204053 RCV003765357 RCV003778693 RCV002518850 RCV003779294 RCV003785482 RCV003782186 RCV003782193 RCV003782916 RCV003781091 RCV003781092 RCV003781093 RCV003781095 RCV003781096 RCV003781771 RCV003779995 RCV003789017 RCV003795315 RCV003788047 RCV003788721 RCV003793829 RCV003807751 RCV003806463 RCV003806910 RCV003799509 RCV003800058 RCV003790695 RCV003802984 RCV003800882 RCV003803583 RCV003795082 RCV003807016 RCV003804716 RCV003802312 RCV003813539 RCV003809637 RCV003801756 RCV003815610 RCV003813327 RCV003807557 RCV003812350 RCV003812936 RCV003812961 RCV000458928 RCV001860256 RCV000636959 RCV003768227 RCV000795737 RCV000796743 RCV000794153 RCV000560903 RCV001853069 RCV000823807 RCV000694518 RCV003764723 RCV005213202 RCV002514271 RCV000636962 RCV001853071 RCV002514272 RCV003770476
Joubert syndrome 1	Pathogenic	rs1586074742	RCV000988095
Joubert syndrome 6	Pathogenic; Likely pathogenic	rs1812544253, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs775883520, rs751309268 View all (26 more)	RCV001376183 RCV000001433 RCV000001436 RCV000001438 RCV000201576 RCV000001443 RCV000001446 RCV000201565 RCV000201677 RCV000587331 RCV000001452 RCV000001455 RCV000001456 RCV000001457 RCV000201726 RCV000201716 RCV000201664 RCV000201733 RCV000201614 RCV000201590 RCV000201527 RCV000201528 RCV000201732 RCV000201701 RCV000201544 RCV000201665 RCV000201592 RCV000201630 RCV000201638 RCV000201535 RCV000201657 RCV000490354 RCV003324274 RCV003331567 RCV003332932 RCV000853609 RCV000201777 RCV005357429 RCV000194151 RCV000201769 RCV001175228 RCV001293702
Joubert syndrome and related disorders	Pathogenic; Likely pathogenic	rs201791586, rs137853107, rs137853108, rs267607119, rs201893408, rs202149403, rs1814667437, rs777092269, rs2536753612, rs863225240, rs1390541519, rs886039810, rs2536929958, rs747025617, rs1563672487, rs386834182, rs386834202, rs775716868 View all (3 more)	RCV002509688 RCV004585980 RCV002298428 RCV001804708 RCV005887187 RCV004689399 RCV002308704 RCV002510413 RCV002510414 RCV005055723 RCV003155852 RCV000256415 RCV003493353 RCV001779030 RCV004586909 RCV001804788 RCV003478992 RCV006262352
Lung cancer	Likely pathogenic; Pathogenic	rs768412278	RCV005930086
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs768412278	RCV005930084
Meckel syndrome, type 3	Pathogenic; Likely pathogenic	rs2130757733, rs201791586, rs748937483, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187, rs137853108, rs267607119, rs201893408, rs868404889, rs749435317, rs765468645, rs747025617 View all (23 more)	RCV001844406 RCV001844407 RCV001844408 RCV000001430 RCV000001431 RCV000001432 RCV000001434 RCV000001435 RCV000001442 RCV000995902 RCV000763610 RCV002254385 RCV003997697 RCV003236585 RCV003338698 RCV000049341 RCV000050175 RCV000050176 RCV000050177 RCV000050178 RCV000050179 RCV000050180 RCV000050181 RCV000050182 RCV000050184 RCV000050185 RCV000050188 RCV000050189 RCV000050190 RCV000050191 RCV000050192 RCV000050193 RCV000050195 RCV000050196 RCV000050197 RCV000050200 RCV000050201 RCV000050202
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs2130690833, rs150332116, rs2130735817, rs201791586, rs1563458773, rs587779736, rs2130735328, rs2130528812, rs115195998, rs2130719298, rs1211156516, rs863225238, rs2130664400, rs2130719312, rs149475825 View all (102 more)	RCV001387503 RCV001384718 RCV001386357 RCV002538533 RCV001885192 RCV000114249 RCV005213597 RCV001927395 RCV001939456 RCV001889476 RCV002047102 RCV001971095 RCV001946055 RCV002037856 RCV002035252 RCV001942012 RCV001942030 RCV001920653 RCV001986645 RCV001900622 RCV001888645 RCV001949607 RCV002039875 RCV001851544 RCV002512641 RCV002512642 RCV000468558 RCV000821785 RCV001388801 RCV001851546 RCV000534533 RCV001851547 RCV001389251 RCV003774755 RCV003099119 RCV003061040 RCV003053038 RCV003081750 RCV002588632 RCV002625011 RCV003775563 RCV003775564 RCV002755210 RCV002821033 RCV002833175 RCV002857061 RCV002894619 RCV000198666 RCV003765305 RCV002517316 RCV005222828 RCV000636949 RCV001853243 RCV002515477 RCV003018654 RCV003026877 RCV003051786 RCV003044661 RCV003066098 RCV000204053 RCV003765357 RCV003778693 RCV002518850 RCV003779294 RCV003785482 RCV003782186 RCV003782193 RCV003782916 RCV003781091 RCV003781092 RCV003781093 RCV003781095 RCV003781096 RCV003781771 RCV003779995 RCV003789017 RCV003795315 RCV003788047 RCV003788721 RCV003793829 RCV003807751 RCV003806463 RCV003806910 RCV003799509 RCV003800058 RCV003790695 RCV003802984 RCV003800882 RCV003803583 RCV003795082 RCV003807016 RCV003804716 RCV003802312 RCV003813539 RCV003809637 RCV003801756 RCV003815610 RCV003813327 RCV003807557 RCV003812350 RCV003812936 RCV003812961 RCV000458928 RCV000613872 RCV000636959 RCV003768227 RCV000795737 RCV000796743 RCV000794153 RCV000114240 RCV001853069 RCV000823807 RCV000694518 RCV003764723 RCV005213202 RCV002514271 RCV000636962 RCV001853071 RCV002514272 RCV003770476
Multiple renal cysts	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679
Nephronophthisis	Likely pathogenic; Pathogenic	rs201893408, rs202149403	RCV000234823 RCV000234813
Nephronophthisis 11	Pathogenic; Likely pathogenic	rs778155409, rs267607119, rs267607116, rs201893408, rs267607117, rs775883520, rs138783896, rs386834190, rs1813039419, rs1813838655	RCV003152777 RCV005357054 RCV000001450 RCV000001451 RCV000001453 RCV000001454 RCV004798803 RCV001281327 RCV005357429 RCV001281328 RCV001281326
Nystagmus	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002
Oligohydramnios	Likely pathogenic; Pathogenic	rs201893408	RCV000415055
Renal cyst	Likely pathogenic; Pathogenic	rs201893408	RCV000415055
RHYNS syndrome	Pathogenic; Likely pathogenic	rs137853108, rs267607119, rs201893408, rs967792092, rs386834190, rs1423869993	RCV000723362 RCV005357054 RCV001197497 RCV000723363 RCV005357429 RCV001198160
Spastic ataxia	Likely pathogenic	rs2130735756	RCV001647250
TMEM67-related disorder	Likely pathogenic; Pathogenic	rs150332116, rs1258492758, rs778155409, rs137853108, rs267607119, rs201893408, rs202149403, rs863225232, rs1014876003, rs758283688, rs1228731181, rs747025617, rs386834180, rs386834194, rs386834196, rs386834202, rs386834203 View all (2 more)	RCV004531194 RCV004529066 RCV004529044 RCV000334857 RCV003315221 RCV000283682 RCV004732521 RCV004528990 RCV003315267 RCV004534199 RCV004527976 RCV006270409 RCV000778866 RCV004537237 RCV004732643 RCV000279833 RCV004732644
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs768412278	RCV005930087

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs34022540	RCV005911528
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	rs768929156	RCV002294722
Bardet-Biedl syndrome 14, modifier of	Conflicting classifications of pathogenicity	rs111619594	RCV000001444
Cervical cancer	Conflicting classifications of pathogenicity	rs115563233	RCV005895406
Ciliopathy	Uncertain significance	rs201949664	RCV002272216
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs115563233	RCV005895407
Colon adenocarcinoma	Benign	rs587779735	RCV005867902
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs111619594	RCV005887185
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs34022540, rs35765535, rs770813739, rs587779735	RCV005911529 RCV005887851 RCV005922847 RCV005869866
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs35765535	RCV005887850
Intellectual disability	Uncertain significance	rs148726767	RCV001252367
Kidney disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs117195541, rs192288680, rs1473244821, rs115563233	RCV002294034 RCV002294494 RCV002294603 RCV002294093
Kidney failure	Conflicting classifications of pathogenicity; Uncertain significance	rs111991507, rs148726767	RCV005625488 RCV005625507
Melanoma	Conflicting classifications of pathogenicity	rs35765535	RCV005887853
Microcephaly	Uncertain significance	rs1428830691	RCV001252761
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs115563233	RCV005895405
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs35765535, rs115563233	RCV005887852 RCV005895408
Sarcoma	Uncertain significance	rs886063172	RCV005899413
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs111619594, rs115563233	RCV005887186 RCV005895409
Uterine carcinosarcoma	Benign	rs34022540	RCV005911530

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	17160906, 17960139, 18950740, 19058225, 19540516, 19574260, 27491411, 29146704, 32000717, 33432080, 37131188, 37910852, 38502237
Anemia	Associate	19540516
Aphasia Conduction	Associate	37910852
Apraxia oculomotor Cogan type	Associate	19540516
Central Nervous System Vascular Malformations	Associate	19540516
Ciliopathies	Associate	19540516, 20232449, 21068128, 27491411, 35764379, 37471416
COACH syndrome	Associate	19058225, 19574260
Coloboma	Associate	19058225, 26092869
Encephalocele	Associate	12384791
Esophageal Neoplasms	Associate	33463006
Hepatic Fibrosis Congenital	Associate	19058225, 19574260
Hypertension	Associate	19540516
Hypertension Portal	Associate	29112083
Inflammation	Associate	36194576
Joubert syndrome 6	Associate	37910852
Kidney Diseases	Associate	19540516, 29146704
Liver Cirrhosis	Associate	26092869, 29891882
Liver Diseases	Associate	19574260
Liver Failure	Associate	19058225, 20232449, 27491411
Lung Neoplasms	Associate	36194576
Meckel syndrome type 1	Associate	12384791, 17160906, 19058225, 19540516, 19777577, 20232449, 21493627, 26191240, 32160518, 34356094
Meckel syndrome type 3	Associate	24039893, 26191240
Nephronophthisis 2	Associate	21866095
Nephronophthisis familial juvenile	Associate	19058225, 19540516, 21866095
Obesity	Associate	33921825
Polycystic Kidney Autosomal Recessive	Associate	19540516
Polycystic Kidney Diseases	Associate	34356094
Polydactyly	Associate	12384791
Pulmonary Disease Chronic Obstructive	Associate	36194576
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Associate	19058225
RHYNS syndrome	Associate	29891882

TMEM67 (transmembrane protein 67)