CC2D2A (coiled-coil and C2 domain containing 2A)

Gene

• Entrez ID: 57545
• Gene name: Coiled-coil and C2 domain containing 2A
• Gene symbol: CC2D2A
• Synonyms (NCBI Gene): COACH2, JBTS9, MKS6, RP93
• Chromosome: 4
• Chromosome location: 4p15.32
• Summary: This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16892134	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs61740537	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs116358011	C>A,G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, non coding transcript variant
rs118204051	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs118204052	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs118204053	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, non coding transcript variant
rs150093365	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs182369056	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs186264635	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs188891842	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs190698163	T>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199688524	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199861496	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200407856	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs200427832	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200764366	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200904521	C>A,T	Pathogenic, uncertain-significance	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs201502401	A>T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs202150325	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs267606709	C>T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs367841700	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs368720062	T>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs369022150	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs370492044	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs370880399	C>T	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs371086728	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs372292129	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs372671421	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs373296447	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs373960465	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs375131519	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs375278294	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs376644970	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs377177061	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs386833745	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833746	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833747	G>A,C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs386833748	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833749	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs386833750	C>A,G,T	Likely-pathogenic, pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant
rs386833751	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, genic downstream transcript variant
rs386833752	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833753	C>A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs386833754	->TG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833755	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833756	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs386833757	->T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833758	T>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs386833759	AGTA>-	Likely-pathogenic, pathogenic	Downstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, splice donor variant
rs386833760	G>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant
rs386833762	T>A,C	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs386833763	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs386833764	GAA>-	Likely-pathogenic, benign, likely-benign	Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant
rs386833765	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs387907058	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs570078140	T>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs576298659	C>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs587779732	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs746415983	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs754221308	T>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs755258233	C>A,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs755367503	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs757208121	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs758036385	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs760918829	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs762683334	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs762998472	->GGCATGTTTTGGC,GGCATGTTTTGGCAGCGA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, inframe insertion, non coding transcript variant
rs763486732	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs763735590	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs764719093	C>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs771914973	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs773740057	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs773881370	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs777158229	G>A,C	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs778205727	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs778858648	T>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs779823379	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs780673487	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs780814559	G>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs781252161	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs786205568	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs794729225	GAA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs794729226	CT>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs797044636	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs797045437	GACA>-	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225168	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225169	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225170	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225171	->GGTT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs863225172	G>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs863225173	T>C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs863225174	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225175	CTCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs863225176	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225177	AGA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe indel
rs863225178	G>A,C	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs863225179	A>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs863225181	G>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, intron variant
rs886044295	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs896947430	C>T	Pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant, non coding transcript variant
rs1064793618	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1064794798	G>A,C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691659	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1176927796	TTTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1179041639	T>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1288358527	C>A,T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1313708855	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1392635342	->TA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1433294475	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1553827236	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553845300	G>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553845302	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1553845569	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560166511	CAG>AA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1560180188	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1560184664	TA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, downstream transcript variant, frameshift variant, genic downstream transcript variant
rs1560188288	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1560196436	GTTT>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1577309042	A>TC	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1577340510	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577372471	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1577396376	AC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1577406415	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022941	hsa-miR-124-3p	Microarray	18668037
MIRT049128	hsa-miR-92a-3p	CLASH	23622248
MIRT543392	hsa-miR-3133	PAR-CLIP	21572407
MIRT543391	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543390	hsa-miR-583	PAR-CLIP	21572407
MIRT543389	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT543388	hsa-miR-4463	PAR-CLIP	21572407
MIRT543387	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543386	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543385	hsa-miR-4329	PAR-CLIP	21572407
MIRT543384	hsa-miR-6861-5p	PAR-CLIP	21572407
MIRT543383	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT543382	hsa-miR-555	PAR-CLIP	21572407
MIRT543381	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT543380	hsa-miR-3672	PAR-CLIP	21572407
MIRT543379	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT440993	hsa-miR-544a	HITS-CLIP	24374217
MIRT440993	hsa-miR-544a	HITS-CLIP	24374217
MIRT543392	hsa-miR-3133	PAR-CLIP	21572407
MIRT543391	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT543390	hsa-miR-583	PAR-CLIP	21572407
MIRT543389	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT543388	hsa-miR-4463	PAR-CLIP	21572407
MIRT543387	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT543386	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT543385	hsa-miR-4329	PAR-CLIP	21572407
MIRT543384	hsa-miR-6861-5p	PAR-CLIP	21572407
MIRT543383	hsa-miR-873-3p	PAR-CLIP	21572407
MIRT543382	hsa-miR-555	PAR-CLIP	21572407
MIRT543381	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT543380	hsa-miR-3672	PAR-CLIP	21572407
MIRT543379	hsa-miR-6864-3p	PAR-CLIP	21572407
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT867107	hsa-miR-143	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT867110	hsa-miR-3655	CLIP-seq
MIRT867111	hsa-miR-4251	CLIP-seq
MIRT867112	hsa-miR-4279	CLIP-seq
MIRT867113	hsa-miR-4303	CLIP-seq
MIRT867114	hsa-miR-4708-5p	CLIP-seq
MIRT867115	hsa-miR-4762-3p	CLIP-seq
MIRT867116	hsa-miR-4770	CLIP-seq
MIRT867117	hsa-miR-548t	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194304	hsa-miR-125a-3p	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT2194305	hsa-miR-136	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2194307	hsa-miR-3155	CLIP-seq
MIRT2194308	hsa-miR-3155b	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT2194310	hsa-miR-3200-5p	CLIP-seq
MIRT2194311	hsa-miR-33a	CLIP-seq
MIRT2194312	hsa-miR-33b	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2194313	hsa-miR-3545-3p	CLIP-seq
MIRT2194314	hsa-miR-3663-5p	CLIP-seq
MIRT2194315	hsa-miR-3934	CLIP-seq
MIRT2194316	hsa-miR-4284	CLIP-seq
MIRT2194317	hsa-miR-4419a	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT2194319	hsa-miR-4510	CLIP-seq
MIRT2194320	hsa-miR-451b	CLIP-seq
MIRT2194321	hsa-miR-4635	CLIP-seq
MIRT2194322	hsa-miR-4680-5p	CLIP-seq
MIRT2194323	hsa-miR-4710	CLIP-seq
MIRT2194324	hsa-miR-4716-5p	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2194325	hsa-miR-4781-3p	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2194327	hsa-miR-4792	CLIP-seq
MIRT2194328	hsa-miR-484	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194330	hsa-miR-515-5p	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2194332	hsa-miR-764	CLIP-seq
MIRT2446292	hsa-miR-1267	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT2446293	hsa-miR-1289	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT867107	hsa-miR-143	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2446294	hsa-miR-3135	CLIP-seq
MIRT2446295	hsa-miR-3135b	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT2446297	hsa-miR-3194-3p	CLIP-seq
MIRT2446298	hsa-miR-3198	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446299	hsa-miR-3652	CLIP-seq
MIRT2446300	hsa-miR-3929	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2446302	hsa-miR-4294	CLIP-seq
MIRT2446303	hsa-miR-4309	CLIP-seq
MIRT2446304	hsa-miR-431	CLIP-seq
MIRT2446305	hsa-miR-4419b	CLIP-seq
MIRT2446306	hsa-miR-4423-5p	CLIP-seq
MIRT2446307	hsa-miR-4430	CLIP-seq
MIRT2446308	hsa-miR-4478	CLIP-seq
MIRT2446309	hsa-miR-4534	CLIP-seq
MIRT867114	hsa-miR-4708-5p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT867116	hsa-miR-4770	CLIP-seq
MIRT2446311	hsa-miR-4774-3p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq
MIRT2446315	hsa-miR-645	CLIP-seq
MIRT2446316	hsa-miR-924	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194330	hsa-miR-515-5p	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq
MIRT867105	hsa-miR-1273f	CLIP-seq
MIRT867106	hsa-miR-129-5p	CLIP-seq
MIRT1957358	hsa-miR-150	CLIP-seq
MIRT867108	hsa-miR-186	CLIP-seq
MIRT2194306	hsa-miR-1915	CLIP-seq
MIRT2446296	hsa-miR-3149	CLIP-seq
MIRT2194309	hsa-miR-3170	CLIP-seq
MIRT867109	hsa-miR-340	CLIP-seq
MIRT2446301	hsa-miR-411	CLIP-seq
MIRT2194318	hsa-miR-4438	CLIP-seq
MIRT1957359	hsa-miR-4726-3p	CLIP-seq
MIRT2446310	hsa-miR-4735-5p	CLIP-seq
MIRT2446312	hsa-miR-4775	CLIP-seq
MIRT2194326	hsa-miR-4787-3p	CLIP-seq
MIRT2446313	hsa-miR-4794	CLIP-seq
MIRT1957360	hsa-miR-498	CLIP-seq
MIRT2194329	hsa-miR-5095	CLIP-seq
MIRT2194331	hsa-miR-562	CLIP-seq
MIRT2446314	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0035082	Process	Axoneme assembly	IEA
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IEA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036038	Component	MKS complex	IEA
GO:0036038	Component	MKS complex	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044458	Process	Motile cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1904491	Process	Protein localization to ciliary transition zone	IBA
GO:1904491	Process	Protein localization to ciliary transition zone	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA

Other IDs

• MIM: 612013
• HGNC: 29253
• e!Ensembl: ENSG00000048342

Protein

• UniProt ID: Q9P2K1
• Protein name: Coiled-coil and C2 domain-containing protein 2A
• Protein function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and s
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17661	DUF5523	131 → 383	Family of unknown function (DUF5523)	Family
  PF15625	CC2D2AN-C2	645 → 819	CC2D2A N-terminal C2 domain	Domain
  PF00168	C2	1041 → 1205	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart. {ECO:0000269|PubMed:18387594, EC
• Sequence:

  MNPREEKVKIITEEFIENDEDADMGRQNKNSKVRRQPRKKQPPTAVPKEMVSEKSHLGNP
  QEPVQEEPKTRLLSMTVRRGPRSLPPIPSTSRTGFAEFSMRGRMREKLQAARSKAESALL
  QEIPTPRPRRLRSPSKKELETEFGTEPGKEVERTQQEVDSQSYSRVKFHDSARKIKPKPQ
  VPPGFPSAEEAYNFFTFNFDPEPEGSEEKPKARHRAGTNQEEEEGEEEEPPAQGGGKEMD
  EEELLNGDDAEDFLLGLDHVADDFVAVRPADYESIHDRLQMEREMLFIPSRQTVPTYKKL
  PENVQPRFLEDEGLYTGVRPEVARTNQNIMENRLLMQDPERRWFGDDGRILALPNPIKPF
  PSRPPVLTQEQSIKAELETLYKKAVKYVHSSQHVIRSGDPPGNFQLDIDISGLIFTHHPC
  FSREHVLAAKLAQLYDQYLARHQRNKAKFLTDKLQALRNAVQTGLDPEKPHQSLDTIQKT
  INEYKSEIRQTRKFRDAEQEKDRTLLKTIIKVWKEMKSLREFQRFTNTPLKLVLRKEKAD
  QKADEEAYEAEIQAEISELLEEHTEEYAQKMEEYRTSLQQWKAWRKVQRAKKKKRKQAAE
  EHPGDEIAEPYPEEDLVKPSPPEPTDRAVIEQEVRERAAQSRRRPWEPTLVPELSLAGSV
  TPNDQCPRAEVSRREDVKKRSVYLKVLFNNKEVSRTVSRPLGADFRVHFGQIFNLQIVNW
  PESLTLQVYETVGHSSPTLLAEVFLPIPETTVVTGRAPTEEVEFSSNQHVTLDHEGVGSG
  VPFSFEADGSNQLTLMTSGKVSHSVAWAIGENGIPLIPPLSQQNIGFRSALKKADAISSI
  GTSGLTDMKKLAKWAAESKLDPNDPNNAPLMQLISVATSGESYVPDFFRLEQLQQEFNFV
  SDQELNRSKRFRLLHLRSQEVPEFRNYKQVPVYDREIMEKVFQDYEKRLRDRNVIETKEH
  IDTHRAIVAKYLQQVRESVINRFLIAKQYFLLADMIVEEEVPNISILGLSLFKLAEQKRP
  LRPRRKGRKKVTAQNLSDGDIKLLVNIVRAYDIPVRKPAVSKFQQPSRSSRMFSEKHAAS
  PSTYSPTHNADYPLGQVLVRPFVEVSFQRTVCHTTTAEGPNPSWNEELELPFRAPNGDYS
  TASLQSVKDVVFINIFDEVLHDVLEDDRERGSGIHTRIERHWLGCVKMPFSTIYFQARID
  GTFKIDIPPVLLGYSKERNMILERGFDSVRSLSEGSYITLFITIEPQLVPGESIREKFES
  QEDEKLLQATEKFQAECALKFPNRQCLTTVIDISGKTVFITRYLKPLNPPQELLNVYPNN
  LQATAELVARYVSLIPFLPDTVSFGGICDLWSTSDQFLDLLAGDEEEHAVLLCNYFLSLG
  KKAWLLMGNAIPEGPTAYVLTWEQGRYLIWNPCSGHFYGQFDTFCPLKNVGCLIGPDNIW
  FNIQRYESPLRINFDVTRPKLWKSFFSRSLPYPGLSSVQPEELIYQRSDKAAAAELQDRI
  EKILKEKIMDWRPRHLTRWNRYCTSTLRHFLPLLEKSQGEDVEDDHRAELLKQLGDYRFS
  GFPLHMPYSEVKPLIDAVYSTGVHNIDVPNVEFALAVYIHPYPKNVLSVWIYVASLIRNR
  

• Sequence length: 1620

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 prenatal development or birth	Likely pathogenic; Pathogenic	rs145678228	RCV001814449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anencephaly	Likely pathogenic; Pathogenic	rs2109029810, rs386833760	RCV001391271 RCV001391272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CC2D2A-related disorder	Pathogenic; Likely pathogenic	rs2109029867, rs775292940, rs118204052, rs118204053, rs200407856, rs764719093, rs797045437, rs370880399, rs201502401, rs2474955144, rs1718392791, rs1338343514, rs773740057, rs1313708855, rs386833748, rs386833749, rs386833751, rs386833757, rs1721483506, rs781206278, rs563610095	RCV004733283 RCV006266972 RCV004532267 RCV004528061 RCV004732713 RCV004528978 RCV005237686 RCV000778722 RCV000778102 RCV004538999 RCV004733650 RCV004690482 RCV004733036 RCV004723184 RCV000778721 RCV005222732 RCV004528259 RCV004732639 RCV005225258 RCV005866905 RCV005432641	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ciliopathy	Likely pathogenic; Pathogenic	rs201502401, rs386833757	RCV005365132 RCV003993780	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs370880399	RCV005893613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COACH syndrome 1	Likely pathogenic; Pathogenic	rs764719093, rs781252161, rs370880399, rs201502401, rs1553845300, rs1560184664, rs386833757, rs1719933188	RCV000763523 RCV000763522 RCV000763524 RCV001542750 RCV000626104 RCV000714878 RCV001542749 RCV001250524	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COACH syndrome 2	Pathogenic; Likely pathogenic	rs2109029867, rs761213221, rs1271825377, rs377177061, rs1022325907, rs775292940, rs2108970120, rs116358011, rs118204052, rs118204053, rs386833750, rs200407856, rs1367275342, rs767783281, rs764719093, rs797045437, rs781252161, rs773881370, rs370880399, rs779823379, rs201502401, rs1213164662, rs1717586613, rs2474909050, rs2475092773, rs2475051413, rs754985710, rs2474921234, rs2475033368, rs757208121, rs1560166511, rs1433294475, rs982352950, rs1560180188, rs1313708855, rs1577372471, rs1577406415, rs386833745, rs386833749, rs386833751, rs386833757, rs386833760, rs386833763, rs386833765, rs1471484901, rs760676442, rs200707391, rs980305935, rs563610095	RCV004796624 RCV005023216 RCV005038317 RCV005025174 RCV004796678 RCV005031912 RCV005025525 RCV005024978 RCV001269034 RCV005222657 RCV000000783 RCV005031661 RCV005028330 RCV005032313 RCV005025311 RCV004796091 RCV001814111 RCV004796099 RCV005031762 RCV005031761 RCV005031763 RCV005036707 RCV005030262 RCV005038508 RCV005038519 RCV004796847 RCV004796846 RCV005392701 RCV005030272 RCV005038522 RCV005027531 RCV002507285 RCV005027907 RCV005036101 RCV005029441 RCV005036132 RCV005036152 RCV005036236 RCV005025100 RCV005025101 RCV002266895 RCV005031534 RCV002490623 RCV005031535 RCV001814033 RCV005029671 RCV002489573 RCV005029754 RCV005029847 RCV002499450	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Encephalocele	Pathogenic	rs980305935, rs1719950579	RCV001257355 RCV001257356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs763425007, rs2108998253, rs1027674181, rs1560166488, rs2109029867, rs2109060174, rs2109060214, rs2109070615, rs1473532901, rs2109090291, rs772110399, rs145678228, rs780190318, rs761213221, rs529437224, rs1449972974, rs1271825377, rs770219362, rs377177061, rs2109070607, rs1296652053, rs2109070604, rs2109012834, rs2109083312, rs754221308, rs2109077880, rs1716886666, rs1022325907, rs1312758061, rs1560199860, rs775292940, rs2108970120, rs116358011, rs118204052, rs118204053, rs386833750, rs200407856, rs1367275342, rs1718163724, rs767783281, rs794729226, rs1044009143, rs949606263, rs200707391, rs2474965141, rs1721486976, rs764719093, rs797045437, rs1472068665, rs2474888813, rs2475106059, rs2474955286, rs2475093534, rs1716561509, rs2475092915, rs1323514351, rs781252161, rs200904521, rs773881370, rs370880399, rs863225173, rs863225171, rs779823379, rs763735590, rs386833759, rs863225168, rs201502401, rs1484983836, rs2475123994, rs2474890606, rs2474955188, rs890421496, rs375278294, rs886044295, rs757807971, rs1469975894, rs1716895762, rs2474823203, rs2475046362, rs2148496033, rs1170204399, rs1189294231, rs2475128123, rs1717586613, rs2475083325, rs1716492953, rs2475019890, rs1171520322, rs2474909050, rs1419232670, rs386833747, rs1560187743, rs2475163025, rs764788925, rs376561287, rs2475157352, rs776159564, rs1718392791, rs1719937487, rs2475106281, rs2475157096, rs2474814350, rs1721481933, rs2475156660, rs1720997777, rs1443329727, rs1553842818, rs2475092773, rs1191597081, rs2475079967, rs2475051413, rs1560196405, rs754687282, rs1720921490, rs1447155539, rs2475093374, rs2474978902, rs1008514114, rs754985710, rs2475026265, rs2474921234, rs2475157423, rs2474890243, rs2474966060, rs2475046668, rs2474814375, rs2474890363, rs2474988370, rs2474920861, rs2475148144, rs2474830777, rs2474978321, rs2474909022, rs2475092769, rs2475144110, rs2475061426, rs746409565, rs762998472, rs1278804341, rs1718406119, rs2474988519, rs2475093346, rs2475074578, rs2475093512, rs2474814382, rs1338343514, rs2474823496, rs2475148089, rs2475148033, rs2475033368, rs2474965222, rs749583615, rs2474978426, rs1716487985, rs757208121, rs1131691659, rs1553845917, rs758036385, rs1179041639, rs1433294475, rs773740057, rs1560196436, rs1158349299, rs982352950, rs386833762, rs1288358527, rs1560180188, rs746415983, rs1577340510, rs1313708855, rs1577372471, rs386833745, rs386833748, rs386833749, rs386833751, rs386833752, rs386833753, rs386833757, rs386833760, rs386833763, rs1471484901, rs765873247, rs760676442, rs1720595936, rs1453265480, rs1716552711, rs1719930798, rs765072583, rs1445978091, rs764874938, rs867390302, rs980305935, rs1719950579, rs781206278, rs563610095	RCV001337954 RCV001378848 RCV001379977 RCV001382050 RCV001387946 RCV001388260 RCV001386608 RCV001390196 RCV001381356 RCV001380316 RCV001384492 RCV001873813 RCV005213557 RCV002539748 RCV002540665 RCV002544238 RCV003772133 RCV003772147 RCV001056175 RCV001878330 RCV002032244 RCV002046548 RCV001906271 RCV001982526 RCV002040213 RCV001964482 RCV001977648 RCV001919810 RCV001926442 RCV001866645 RCV001964571 RCV001946878 RCV001385996 RCV003764503 RCV002512617 RCV000199602 RCV000198057 RCV002651820 RCV003117992 RCV002577667 RCV002519818 RCV002626865 RCV002639091 RCV002780027 RCV002811283 RCV002834944 RCV003765214 RCV000687812 RCV002861502 RCV002866886 RCV002853305 RCV002862483 RCV002872505 RCV002899402 RCV002912482 RCV002967622 RCV000458965 RCV002515475 RCV005222826 RCV001853233 RCV000702498 RCV003765303 RCV001207358 RCV001853232 RCV003765302 RCV000800604 RCV003765301 RCV000347415 RCV002991380 RCV003006401 RCV003026910 RCV003035295 RCV003047791 RCV001383169 RCV003765673 RCV003779275 RCV003784024 RCV003784171 RCV003784248 RCV003782411 RCV003782440 RCV003783056 RCV003783253 RCV003795541 RCV003779435 RCV003779471 RCV003780135 RCV003782616 RCV003788527 RCV003780839 RCV003788933 RCV003792793 RCV003787760 RCV003788433 RCV003786368 RCV003786740 RCV003798351 RCV003794068 RCV003794577 RCV003807845 RCV003808126 RCV003806129 RCV003808386 RCV003806337 RCV003804478 RCV003799481 RCV003799561 RCV003799607 RCV003791705 RCV003791785 RCV003800026 RCV003800059 RCV003805394 RCV003805793 RCV003803764 RCV003803911 RCV003803966 RCV003801544 RCV003801585 RCV003798579 RCV003798998 RCV003797632 RCV003805342 RCV003805344 RCV003800602 RCV003800623 RCV003803235 RCV003803290 RCV003801241 RCV003796782 RCV003795147 RCV003795163 RCV003800381 RCV003808439 RCV003808506 RCV003808602 RCV003808622 RCV003808649 RCV003800696 RCV003800806 RCV003802081 RCV003802469 RCV003817725 RCV003813472 RCV003813592 RCV003809519 RCV003809569 RCV003801704 RCV003801769 RCV003809871 RCV003810059 RCV003810067 RCV003813239 RCV003813364 RCV003807682 RCV003812411 RCV003812789 RCV003812790 RCV000456449 RCV003766778 RCV000554017 RCV000528326 RCV001868945 RCV001071662 RCV003768221 RCV003768249 RCV001869144 RCV001236760 RCV001869137 RCV003768461 RCV001869170 RCV000808341 RCV000792191 RCV000793158 RCV000798242 RCV001853047 RCV002513686 RCV001853048 RCV001060313 RCV000817119 RCV002514252 RCV001346597 RCV001389255 RCV000696362 RCV001853050 RCV001072004 RCV001058006 RCV001041856 RCV001071661 RCV001064720 RCV001047515 RCV001066177 RCV001207137 RCV001205546 RCV001241811 RCV001239220 RCV001231205 RCV001879968 RCV003770343 RCV001880021 RCV001880034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Pathogenic; Likely pathogenic	rs1022325907, rs794729226, rs757208121	RCV003444065 RCV000987419 RCV000987416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 10	Likely pathogenic; Pathogenic	rs1577406415	RCV004527417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 9	Likely pathogenic; Pathogenic	rs2109070129, rs2109029867, rs772110399, rs780190318, rs761213221, rs529437224, rs1271825377, rs377177061, rs1022325907, rs775292940, rs2108970120, rs2109050324, rs116358011, rs118204052, rs118204053, rs386833750, rs200407856, rs2475041330, rs786205568, rs1367275342, rs767783281, rs764719093, rs797045437, rs762998472, rs781252161, rs754221308, rs200904521, rs863225178, rs773881370, rs370880399, rs863225173, rs863225171, rs863225172, rs779823379, rs763735590, rs386833759, rs863225176, rs863225168, rs863225179, rs201502401, rs863225174, rs2475127881, rs2474921047, rs1213164662, rs1717586613, rs2474909050, rs2475092773, rs2475051413, rs754985710, rs2474921234, rs2475033368, rs2474921160, rs757208121, rs1131691659, rs1553827236, rs1392635342, rs1560184664, rs1560166511, rs1433294475, rs982352950, rs1560180188, rs1577396376, rs746415983, rs1313708855, rs1577372471, rs1577406415, rs386833745, rs386833749, rs386833751, rs386833752, rs386833757, rs386833760, rs386833763, rs386833765, rs1471484901, rs760676442, rs1721483506, rs1719092280, rs200707391, rs1719933188, rs980305935, rs563610095	RCV001376530 RCV004796624 RCV002471104 RCV001706785 RCV005023216 RCV001775184 RCV005038317 RCV004698824 RCV002554223 RCV005031912 RCV005025525 RCV000000777 RCV005024978 RCV000000780 RCV000000781 RCV002476904 RCV000201663 RCV002472136 RCV003987411 RCV005028330 RCV005032313 RCV000194720 RCV000193046 RCV000201658 RCV000201589 RCV000201529 RCV000201574 RCV000201758 RCV000201775 RCV000201572 RCV000201741 RCV000201593 RCV000201649 RCV000201552 RCV000201723 RCV000201729 RCV000201617 RCV000201598 RCV000201637 RCV000201706 RCV000201684 RCV003128098 RCV005870101 RCV005036707 RCV005030262 RCV005038508 RCV005038519 RCV004796847 RCV004796846 RCV005392701 RCV005030272 RCV005038522 RCV003985961 RCV005027531 RCV005860089 RCV001197299 RCV000659257 RCV000714879 RCV002507285 RCV005027907 RCV005036101 RCV005029441 RCV000790463 RCV001731937 RCV005036132 RCV005036152 RCV005036236 RCV005025100 RCV003989308 RCV000201550 RCV000201581 RCV000201709 RCV000194003 RCV005031535 RCV001814033 RCV005029671 RCV002489573 RCV004527415 RCV004032983 RCV005029754 RCV001250524 RCV005029847 RCV002499450	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 9/15, digenic	Pathogenic	rs386833750	RCV000023922	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs1367275342, rs201502401, rs1419232670	RCV006262344 RCV003317149 RCV005637054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel syndrome, type 6	Pathogenic; Likely pathogenic	rs2109029867, rs761213221, rs1271825377, rs377177061, rs1022325907, rs775292940, rs2108970120, rs116358011, rs118204052, rs118204053, rs386833750, rs200407856, rs1340940841, rs1367275342, rs767783281, rs764719093, rs797045437, rs2474955286, rs781252161, rs773881370, rs370880399, rs779823379, rs386833759, rs201502401, rs375278294, rs1213164662, rs2475124100, rs757807971, rs1717586613, rs2474909050, rs2475092773, rs2475051413, rs754985710, rs2474921234, rs2475033368, rs757208121, rs1560184664, rs1560166511, rs1433294475, rs773740057, rs982352950, rs1560180188, rs1313708855, rs1577372471, rs1577406415, rs386833745, rs386833746, rs386833747, rs386833748, rs386833749, rs386833751, rs386833752, rs386833753, rs386833754, rs386833756, rs386833757, rs386833760, rs386833762, rs386833763, rs386833765, rs1471484901, rs760676442, rs1721483506, rs1719092280, rs200707391, rs1719933188, rs980305935, rs781206278, rs563610095	RCV004796624 RCV005023216 RCV002471153 RCV003317090 RCV004796678 RCV005031912 RCV005025525 RCV000000778 RCV003234885 RCV005222657 RCV002476904 RCV005031661 RCV002470550 RCV005028330 RCV005032313 RCV000763523 RCV004796091 RCV004526208 RCV000763522 RCV004796099 RCV000763524 RCV001261604 RCV000049723 RCV005031763 RCV003987465 RCV005036707 RCV003317790 RCV003486487 RCV005030262 RCV005038508 RCV005038519 RCV004796847 RCV004796846 RCV005392701 RCV005030272 RCV005038522 RCV005027531 RCV000714880 RCV002507285 RCV005027907 RCV004768620 RCV005036101 RCV005029441 RCV005036132 RCV005036152 RCV001000096 RCV000049709 RCV000049710 RCV000049711 RCV000049712 RCV000049713 RCV000049714 RCV000049715 RCV000049716 RCV000049717 RCV000049718 RCV000049720 RCV000049721 RCV000049724 RCV000049726 RCV000049727 RCV000049729 RCV005029671 RCV002489573 RCV001175193 RCV001175194 RCV005029754 RCV001250524 RCV005029847 RCV001261566 RCV001261606 RCV002499450	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs763425007, rs2108998253, rs1027674181, rs1560166488, rs2109029867, rs2109060174, rs2109060214, rs2109070615, rs1473532901, rs2109090291, rs772110399, rs145678228, rs780190318, rs761213221, rs529437224, rs1449972974, rs1271825377, rs770219362, rs377177061, rs2109077865, rs2109070607, rs1296652053, rs2109070604, rs2109012834, rs2109083312, rs754221308, rs2109077880, rs1716886666, rs1022325907, rs1312758061, rs1560199860, rs775292940, rs2108970120, rs116358011, rs118204052, rs118204053, rs386833750, rs200407856, rs1367275342, rs1718163724, rs767783281, rs794729226, rs1044009143, rs949606263, rs200707391, rs2474965141, rs1721486976, rs764719093, rs797045437, rs1472068665, rs2474888813, rs2475106059, rs2474955286, rs2475093534, rs1716561509, rs2475092915, rs1323514351, rs781252161, rs200904521, rs773881370, rs370880399, rs863225173, rs863225171, rs779823379, rs763735590, rs386833759, rs863225168, rs201502401, rs1484983836, rs2475123994, rs2474890606, rs2474955188, rs890421496, rs375278294, rs886044295, rs757807971, rs1469975894, rs1716895762, rs2474823203, rs2475046362, rs2148496033, rs1170204399, rs1189294231, rs2475128123, rs1717586613, rs2475083325, rs1716492953, rs2475019890, rs1171520322, rs2474909050, rs1419232670, rs386833747, rs1560187743, rs2475163025, rs764788925, rs376561287, rs2475157352, rs776159564, rs1718392791, rs1719937487, rs2475106281, rs2475157096, rs2474814350, rs1721481933, rs2475156660, rs1720997777, rs1443329727, rs1553842818, rs2475092773, rs1191597081, rs2475079967, rs2475051413, rs1560196405, rs754687282, rs1720921490, rs1447155539, rs2475093374, rs2474978902, rs1008514114, rs754985710, rs2475026265, rs2474921234, rs2475157423, rs2474890243, rs2474966060, rs2475046668, rs2474814375, rs2474890363, rs2474988370, rs2474920861, rs2475148144, rs2474830777, rs2474978321, rs2474909022, rs2475092769, rs2475144110, rs2475061426, rs746409565, rs762998472, rs1278804341, rs1718406119, rs2474988519, rs2475093346, rs2475074578, rs2475093512, rs2474814382, rs1338343514, rs2474823496, rs2475148089, rs2475148033, rs2475033368, rs2474965222, rs749583615, rs2474978426, rs1716487985, rs757208121, rs1131691659, rs1553845917, rs758036385, rs1179041639, rs1433294475, rs773740057, rs1560196436, rs1158349299, rs982352950, rs386833762, rs1288358527, rs1560180188, rs746415983, rs1577340510, rs1313708855, rs1577372471, rs386833745, rs386833748, rs386833749, rs386833751, rs386833752, rs386833753, rs386833757, rs386833760, rs386833763, rs1471484901, rs765873247, rs760676442, rs1720595936, rs1453265480, rs1716552711, rs1719930798, rs765072583, rs1445978091, rs764874938, rs867390302, rs980305935, rs1719950579, rs781206278, rs563610095	RCV001337954 RCV001378848 RCV001379977 RCV001382050 RCV001387946 RCV001388260 RCV001386608 RCV001390196 RCV001381356 RCV001380316 RCV001384492 RCV001873813 RCV005213557 RCV002539748 RCV002540665 RCV002544238 RCV003772133 RCV003772147 RCV000114178 RCV001814952 RCV001878330 RCV002032244 RCV002046548 RCV001906271 RCV001982526 RCV002040213 RCV001964482 RCV001977648 RCV001919810 RCV001926442 RCV001866645 RCV001964571 RCV001946878 RCV001385996 RCV003764503 RCV002512617 RCV000199602 RCV000198057 RCV002651820 RCV003117992 RCV002577667 RCV002519818 RCV002626865 RCV002639091 RCV002780027 RCV002811283 RCV002834944 RCV003765214 RCV000687812 RCV002861502 RCV002866886 RCV002853305 RCV002862483 RCV002872505 RCV002899402 RCV002912482 RCV002967622 RCV000458965 RCV002515475 RCV005222826 RCV001853233 RCV000702498 RCV003765303 RCV001207358 RCV001853232 RCV003765302 RCV000800604 RCV003765301 RCV000474430 RCV002991380 RCV003006401 RCV003026910 RCV003035295 RCV003047791 RCV001383169 RCV003765673 RCV003779275 RCV003784024 RCV003784171 RCV003784248 RCV003782411 RCV003782440 RCV003783056 RCV003783253 RCV003795541 RCV003779435 RCV003779471 RCV003780135 RCV003782616 RCV003788527 RCV003780839 RCV003788933 RCV003792793 RCV003787760 RCV003788433 RCV003786368 RCV003786740 RCV003798351 RCV003794068 RCV003794577 RCV003807845 RCV003808126 RCV003806129 RCV003808386 RCV003806337 RCV003804478 RCV003799481 RCV003799561 RCV003799607 RCV003791705 RCV003791785 RCV003800026 RCV003800059 RCV003805394 RCV003805793 RCV003803764 RCV003803911 RCV003803966 RCV003801544 RCV003801585 RCV003798579 RCV003798998 RCV003797632 RCV003805342 RCV003805344 RCV003800602 RCV003800623 RCV003803235 RCV003803290 RCV003801241 RCV003796782 RCV003795147 RCV003795163 RCV003800381 RCV003808439 RCV003808506 RCV003808602 RCV003808622 RCV003808649 RCV003800696 RCV003800806 RCV003802081 RCV003802469 RCV003817725 RCV003813472 RCV003813592 RCV003809519 RCV003809569 RCV003801704 RCV003801769 RCV003809871 RCV003810059 RCV003810067 RCV003813239 RCV003813364 RCV003807682 RCV003812411 RCV003812789 RCV003812790 RCV000456449 RCV003766778 RCV000554017 RCV000528326 RCV001868945 RCV001071662 RCV003768221 RCV003768249 RCV001869144 RCV001236760 RCV001869137 RCV003768461 RCV001869170 RCV000808341 RCV000792191 RCV000793158 RCV000798242 RCV001853047 RCV002513686 RCV001853048 RCV001060313 RCV000817119 RCV002514252 RCV001346597 RCV001389255 RCV000696362 RCV001853050 RCV001072004 RCV001058006 RCV001041856 RCV001071661 RCV001064720 RCV001047515 RCV001066177 RCV001207137 RCV001205546 RCV001241811 RCV001239220 RCV001231205 RCV001879968 RCV003770343 RCV001880021 RCV001880034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs863225178, rs201502401, rs760676442	RCV003389049 RCV002277554 RCV002276597	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs386833760	RCV005867838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Pathogenic	rs980305935, rs1719950579	RCV001257355 RCV001257356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly	Likely pathogenic; Pathogenic	rs2109029810, rs386833752, rs386833760	RCV001391271 RCV001007916 RCV001391272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cyst	Likely pathogenic; Pathogenic	rs2109029810, rs386833760	RCV001391271 RCV001391272	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs377177061, rs201502401, rs386833749, rs781206278, rs1716841949	RCV001074483 RCV004816345 RCV004814989 RCV004814036 RCV004814037	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 93	Pathogenic; Likely pathogenic	rs2109029867, rs761213221, rs1271825377, rs377177061, rs1022325907, rs775292940, rs2108970120, rs116358011, rs118204052, rs118204053, rs386833750, rs2148497420, rs200407856, rs1367275342, rs767783281, rs764719093, rs797045437, rs773881370, rs370880399, rs779823379, rs201502401, rs1213164662, rs886044295, rs1717586613, rs2474909050, rs2475092773, rs2475051413, rs754985710, rs2474921234, rs2475033368, rs757208121, rs1560166511, rs1433294475, rs982352950, rs1560180188, rs1313708855, rs1577372471, rs1577406415, rs386833745, rs386833749, rs386833751, rs386833757, rs386833760, rs386833763, rs386833765, rs1471484901, rs760676442, rs200707391, rs980305935, rs563610095	RCV004796624 RCV005023216 RCV005038317 RCV005025174 RCV004796678 RCV005031912 RCV005025525 RCV005024978 RCV005031374 RCV005222657 RCV002476904 RCV002248374 RCV005031661 RCV005028330 RCV005032313 RCV005025311 RCV004796091 RCV004796099 RCV005031762 RCV005031761 RCV005031763 RCV005036707 RCV005869228 RCV005030262 RCV005038508 RCV005038519 RCV004796847 RCV004796846 RCV005392701 RCV005030272 RCV005038522 RCV005027531 RCV002507285 RCV005027907 RCV005036101 RCV005029441 RCV005036132 RCV005036152 RCV005036236 RCV005025100 RCV005025101 RCV005031532 RCV005031534 RCV002490623 RCV005031535 RCV005025102 RCV005029671 RCV002489573 RCV002251560 RCV005029847 RCV002499450	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARIMA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH HEPATIC DEFECT	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULORENAL DEFECT	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL, TYPE A1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achromatopsia	Achromatopsia	BEFREE	30267408		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	31577543, 37131188	Associate	★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34580524	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	18513680, 18950740, 26485645, 26862157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	18950740, 21068128, 26862157, 33486889	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	18513680, 18950740, 19574260, 22246503, 27959436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	BEFREE	19574260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	ORPHANET_DG	19574260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	UNIPROT_DG	19574260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COACH syndrome	Coach syndrome	Pubtator	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
COACH syndrome	Joubert syndrome with congenital hepatic fibrosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	24983964	Associate	★☆☆☆☆ 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	BEFREE	18950740, 26862157		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	18950740, 26862157		★★☆☆☆ 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
Developmental Disabilities	Developmental disability	Pubtator	31577543	Associate	★☆☆☆☆ 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
Encephalocele	Encephalocele	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	18950740, 21816947, 22241855, 23023437, 24706459, 26485645, 27959436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	18950740, 19466712, 19574260, 19777577, 22241855, 22425360, 23012439, 26092869, 26477546, 26485645, 26673778, 27082236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ 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
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	34435324	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	35960079	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis Congenital	Hepatic fibrosis	Pubtator	19574260	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	GENOMICS_ENGLAND_DG	18513680, 19574260		★☆☆☆☆ 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	22241855		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18387594, 22023432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	LHGDN	18387594, 19068953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	31577543, 34435324	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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 1	Joubert Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert Syndrome 9	Joubert syndrome	Pubtator	37107568	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 9 (disorder)	Joubert syndrome	UNIPROT_DG	18387594, 18950740, 19777577, 22241855, 22246503, 22425360, 23012439, 26477546		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 9 (disorder)	Joubert syndrome	GENOMICS_ENGLAND_DG	18513680, 18950740, 19574260, 19777577, 22241855, 22246503, 27959436		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 9 (disorder)	Joubert syndrome	CLINVAR_DG	26092869		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 9 (disorder)	Joubert syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 9/15, DIGENIC	Joubert syndrome, Digenic	CLINVAR_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
Joubert syndrome with oculorenal defect	Joubert Syndrome With Oculorenal Defect	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	34435324	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	26862157	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	30267408		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ 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
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	18513680, 19777577, 22241855, 24706459, 25920555, 30133325, 31411728		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	18513680, 19777577, 21493627, 24706459, 25920555, 33486889, 34981460	Associate	★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	19777577		★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 6 (disorder)	Meckel syndrome	GENOMICS_ENGLAND_DG	18513680, 18950740, 19574260, 19777577, 22246503, 23351400, 27959436		★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 6 (disorder)	Meckel syndrome	UNIPROT_DG	18513680, 19466712, 24706459		★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 6 (disorder)	Meckel syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 6 (disorder)	Meckel syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG	18950740, 19466712, 19574260, 19777577, 22241855, 22425360, 23012439, 26092869, 26477546, 26673778, 27082236		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	19466712, 21110233		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	24706459, 25920555, 30133325		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mental Retardation	Mental retardation	BEFREE	18387594, 22023432		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple small medullary renal cysts	Multiple small medullary renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	21866095		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephronophthisis 2	Nephronophthisis	Pubtator	21866095	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	21866095, 34435324	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31577543	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	31577543	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	23351400		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	34435324	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	18950740	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	18387594		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	19068953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	30267408		★☆☆☆☆ Found in Text Mining only
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
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ 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