TMEM67 (transmembrane protein 67)

Gene

• Entrez ID: 91147
• Gene name: Transmembrane protein 67
• Gene symbol: TMEM67
• Synonyms (NCBI Gene): JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 609884
• HGNC: 28396
• e!Ensembl: ENSG00000164953

Protein

• UniProt ID: 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

Pathways

Reactome:

Anchoring of the basal body to the plasma membrane

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
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs775883520	RCV001814102	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anhydramnios	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs749435317	RCV000490354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 14	Likely pathogenic; Pathogenic	rs201893408	RCV000763610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholangiocarcinoma	Likely pathogenic; Pathogenic	rs768412278	RCV005930085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Enlarged kidney	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs768412278	RCV005930083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iris coloboma	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs2130690833, rs150332116, rs2130735817, rs201791586, rs1563458773, rs587779736, rs2130735328, rs2130528812, rs115195998, rs2130719298, rs1211156516, rs863225238, rs2130664400, rs2130719312, rs149475825, rs1258492758, rs2130668581, rs778155409, rs2130576231, rs745935752, rs2130622403, rs777137476, rs1038920023, rs137853107, rs756686115, rs267607114, rs137853108, rs267607119, rs786200868, rs267607115, rs201893408, rs267607118, rs202149403, rs768412278, rs1814667437, rs759746440, rs747025617, rs2536790773, rs371452453, rs2536790447, rs777092269, rs2536753612, rs2536784649, rs2536904331, rs2536923923, rs2536850924, rs1188649369, rs775883520, rs751309268, rs863225227, rs863225232, rs863225235, rs116647652, rs751517725, rs773594502, rs1014876003, rs2536756606, rs748937483, rs2536899211, rs138783896, rs749435317, rs769957689, rs2536929958, rs2536888058, rs1813878286, rs2536784373, rs2536841703, rs371672760, rs386834185, rs2536904460, rs786200867, rs2536968043, rs267607117, rs2536756723, rs1293481687, rs766282946, rs780230204, rs771421444, rs2536888411, rs1563673490, rs139721499, rs1563474005, rs2536903110, rs1812681075, rs1425829432, rs2536841694, rs2536896644, rs2536929338, rs2536860629, rs2536880959, rs764097983, rs762114240, rs1814047987, rs2536896797, rs1814190165, rs2536842897, rs1420027196, rs2536896446, rs2536888066, rs2536753244, rs1184169158, rs1064792983, rs765468645, rs1563672487, rs774746409, rs1586051330, rs112261772, rs386834180, rs386834182, rs386834183, rs386834190, rs386834194, rs386834201, rs386834202, rs386834203, rs386834205, rs775716868	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Pathogenic	rs1586074742	RCV000988095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 6	Pathogenic; Likely pathogenic	rs1812544253, rs1554557920, rs137853107, rs756686115, rs758948621, rs137853108, rs267607119, rs786200867, rs267607115, rs267607116, rs201893408, rs267607118, rs202149403, rs775883520, rs751309268, rs863225226, rs863225229, rs863225227, rs863225232, rs863225237, rs863225235, rs863225231, rs116647652, rs863225228, rs863225225, rs751517725, rs863225240, rs863225230, rs863225239, rs863225236, rs749435317, rs2536912345, rs2130727900, rs752611698, rs1586336362, rs386834180, rs386834190, rs386834202, rs386834205, rs1812685381, rs775716868	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	RCV002509688 RCV004585980 RCV002298428 RCV001804708 RCV005887187 RCV004689399 RCV002308704 RCV002510413 RCV002510414 RCV005055723 RCV003155852 RCV000256415 RCV003493353 RCV001779030 RCV004586909 RCV001804788 RCV003478992 RCV006262352	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs768412278	RCV005930086	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs768412278	RCV005930084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome, type 3	Pathogenic; Likely pathogenic	rs2130757733, rs201791586, rs748937483, rs386834200, rs386834204, rs386834207, rs137853106, rs386834187, rs137853108, rs267607119, rs201893408, rs868404889, rs749435317, rs765468645, rs747025617, rs786205126, rs386834180, rs386834181, rs386834182, rs386834183, rs386834184, rs386834185, rs386834186, rs386834188, rs386834190, rs386834191, rs386834194, rs386834195, rs386834196, rs386834197, rs386834198, rs386834199, rs386834201, rs386834202, rs386834203, rs386834205, rs386834206, rs386834208	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs2130690833, rs150332116, rs2130735817, rs201791586, rs1563458773, rs587779736, rs2130735328, rs2130528812, rs115195998, rs2130719298, rs1211156516, rs863225238, rs2130664400, rs2130719312, rs149475825, rs1258492758, rs2130668581, rs778155409, rs2130576231, rs745935752, rs2130622403, rs777137476, rs1038920023, rs137853107, rs756686115, rs267607114, rs137853108, rs267607119, rs786200868, rs267607115, rs201893408, rs267607118, rs202149403, rs768412278, rs1814667437, rs759746440, rs747025617, rs2536790773, rs371452453, rs2536790447, rs777092269, rs2536753612, rs2536784649, rs2536904331, rs2536923923, rs2536850924, rs1188649369, rs775883520, rs751309268, rs863225227, rs863225232, rs863225235, rs116647652, rs751517725, rs773594502, rs1014876003, rs2536756606, rs748937483, rs2536899211, rs138783896, rs749435317, rs769957689, rs2536929958, rs2536888058, rs1813878286, rs2536784373, rs2536841703, rs371672760, rs386834185, rs2536904460, rs786200867, rs2536968043, rs267607117, rs2536756723, rs1293481687, rs766282946, rs780230204, rs771421444, rs2536888411, rs1563673490, rs139721499, rs1563474005, rs2536903110, rs1812681075, rs1425829432, rs2536841694, rs2536896644, rs2536929338, rs2536860629, rs2536880959, rs764097983, rs762114240, rs1814047987, rs2536896797, rs1814190165, rs2536842897, rs1420027196, rs2536896446, rs2536888066, rs2536753244, rs1184169158, rs1064792983, rs765468645, rs1563672487, rs774746409, rs1586051330, rs112261772, rs386834180, rs386834182, rs386834183, rs386834190, rs386834194, rs386834201, rs386834202, rs386834203, rs386834205, rs775716868	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple renal cysts	Likely pathogenic; Pathogenic	rs2130735328, rs199821258	RCV001807678 RCV001807679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs201893408, rs202149403	RCV000234823 RCV000234813	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs765468645, rs1554558365	RCV000627005 RCV000627002	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligohydramnios	Likely pathogenic; Pathogenic	rs201893408	RCV000415055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cyst	Likely pathogenic; Pathogenic	rs201893408	RCV000415055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RHYNS syndrome	Pathogenic; Likely pathogenic	rs137853108, rs267607119, rs201893408, rs967792092, rs386834190, rs1423869993	RCV000723362 RCV005357054 RCV001197497 RCV000723363 RCV005357429 RCV001198160	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Likely pathogenic	rs2130735756	RCV001647250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TMEM67-related disorder	Likely pathogenic; Pathogenic	rs150332116, rs1258492758, rs778155409, rs137853108, rs267607119, rs201893408, rs202149403, rs863225232, rs1014876003, rs758283688, rs1228731181, rs747025617, rs386834180, rs386834194, rs386834196, rs386834202, rs386834203	RCV004531194 RCV004529066 RCV004529044 RCV000334857 RCV003315221 RCV000283682 RCV004732521 RCV004528990 RCV003315267 RCV004534199 RCV004527976 RCV006270409 RCV000778866 RCV004537237 RCV004732643 RCV000279833 RCV004732644	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs768412278	RCV005930087	★★★★☆ 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
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 14, modifier of	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOICHIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR MALFORMATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathy	Uncertain significance	ClinVar ClinGen, ClinVar	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH HEPATIC DEFECT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES, CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney failure	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME TYPE 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-BOICHIS SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	16415887		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	19540516	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	19540516	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	23456819		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	18327255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	18327255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CTD_human_DG	18327255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG	16415887		★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	19058225, 26191240, 613550		★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	17705300, 19515853, 20179356, 20232449, 23188109, 23283079, 23393159, 26035863, 29891882		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	19540516, 20232449, 21068128, 27491411, 35764379, 37471416	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	GENOMICS_ENGLAND_DG	16415887, 18327255, 19058225, 19508969, 20607301, 26191240, 613550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	CLINVAR_DG	16415887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	ORPHANET_DG	17160906, 19574260, 20615230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	BEFREE	19058225, 19574260, 19876931, 28860541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	UNIPROT_DG	19058225, 19574260, 28860541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Coach syndrome	Pubtator	19058225, 19574260	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma	Coloboma	Pubtator	19058225, 26092869	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	12384791		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	26092869, 29112083		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	CTD_human_DG	19508969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic kidney	Cystic Kidney Disease	BEFREE	30705305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	CTD_human_DG	19508969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	20179356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic liver disease	Cystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10508989, 19508969, 19574260, 19778711, 20232449, 23559409, 25729630, 25920555, 26092869, 27491411		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	12384791		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	12384791	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33463006	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	12368986, 17377820, 17397051, 19058225, 19508969, 19540516, 19574260, 20232449, 20607301, 21068128, 21866095, 23559409, 25920555, 26035863, 26092869, 26729329, 28431631, 28719906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG	16415887, 18327255, 19508969, 20607301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	17160906, 17960139, 19508969, 23283079, 23393159, 26092869, 28497568, 28719906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	17160906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19508969, 19876931, 26092869, 29891882		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	19508969		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Fibrosis Congenital	Hepatic fibrosis	Pubtator	19058225, 19574260	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	GENOMICS_ENGLAND_DG	19058225, 26191240		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	BEFREE	19508969		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	16415887, 30705305		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG	19508969		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19540516	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Portal	Portal hypertension	Pubtator	29112083	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	19777577		★☆☆☆☆ Found in Text Mining only
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	BEFREE	19777577		★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	17160906		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 6	Joubert Syndrome	CLINVAR_DG	10567047, 16415887, 19058225, 19508969, 19574260, 21633164, 21866095, 23559409, 26092869, 27457812, 28719906		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 6	Joubert Syndrome	GENOMICS_ENGLAND_DG	16415887, 18327255, 19058225, 19508969, 20607301, 613550		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 6	Joubert Syndrome	UNIPROT_DG	17160906, 19508969, 19574260, 21633164, 26477546		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 6	Joubert syndrome	Pubtator	37910852	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 6	Joubert Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with hepatic defect	Joubert Syndrome With Hepatic Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19540516, 29146704	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	28125082, 29112083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	19508969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver cirrhosis	Pubtator	26092869, 29891882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	19574260	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	19058225, 20232449, 27491411	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36194576	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	12384791, 16415887, 17185389, 17397051, 17437276, 17705300, 19508969, 19515853, 23283079, 23393159, 26035863, 28487520, 30705305, 31411728		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	12384791, 17160906, 19058225, 19540516, 19777577, 20232449, 21493627, 26191240, 32160518, 34356094	Associate	★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	16415887, 18327255, 19508969, 20607301		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 3	Meckel syndrome	GENOMICS_ENGLAND_DG	16415887, 18327255, 19058225, 19508969, 20607301, 26191240, 613550		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel syndrome	UNIPROT_DG	16415887, 17185389, 17377820, 19466712, 20232449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel syndrome	CLINVAR_DG	17397051		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel syndrome	BEFREE	19211713, 24039893, 26191240, 28860541, 30705305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel-gruber syndrome	Pubtator	24039893, 26191240	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 3	Meckel syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG	12368986, 17377820, 17397051, 19058225, 19508969, 19540516, 19574260, 20232449, 20607301, 21068128, 21866095, 23559409, 25920555, 26035863, 26092869, 26729329, 28431631, 28719906		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	16415887, 26035863, 30705305		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	17389183, 19466712, 21110233		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10508989, 19508969, 19574260, 19778711, 20232449, 23559409, 25729630, 25920555, 26092869, 27491411		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10508989, 19508969, 19574260, 19778711, 20232449, 23559409, 25729630, 25920555, 26092869, 27491411		★☆☆☆☆ Found in Text Mining only
Multiple small medullary renal cysts	Multiple small medullary renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG	16415887, 18327255, 19508969, 20607301		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	17960139, 19508969, 23188109		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	CLINVAR_DG	19508969, 21866095		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHRONOPHTHISIS 11	Nephronophthisis	GENOMICS_ENGLAND_DG	16415887, 18327255, 19058225, 19508969, 20607301, 26191240, 613550		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 11	Nephronophthisis	BEFREE	19508969		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 11	Nephronophthisis	UNIPROT_DG	19508969		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 11	Nephronophthisis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 11	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 2	Nephronophthisis	Pubtator	21866095	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	19058225, 19540516, 21866095	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	Pubtator	33921825	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	BEFREE	19211713		★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	19540516	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	16415887, 19211713, 23456819, 30705305		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	34356094	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	12384791		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	12384791	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	LHGDN	17377820		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	31473917		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36194576	Associate	★☆☆☆☆ Found in Text Mining only
Renal corticomedullary cysts	Renal corticomedullary cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	BEFREE	28487520		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	RHYNS Syndrome	BEFREE	29891882		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	RHYNS Syndrome	UNIPROT_DG	29891882		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	Rhyns syndrome	Pubtator	29891882	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RHYNS syndrome	RHYNS Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senior-Boichis syndrome	Senior-Boichis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG	10567047, 27457812		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	28860541		★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28161324		★☆☆☆☆ Found in Text Mining only