NPHP3 (nephrocystin 3)

Gene

• Entrez ID: 27031
• Gene name: Nephrocystin 3
• Gene symbol: NPHP3
• Synonyms (NCBI Gene): CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
• Chromosome: 3
• Chromosome location: 3q22.1
• Summary: This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024459	hsa-miR-215-5p	Microarray	19074876
MIRT026854	hsa-miR-192-5p	Microarray	19074876
MIRT641132	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT641131	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT641130	hsa-miR-8073	HITS-CLIP	23824327
MIRT641129	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641128	hsa-miR-5695	HITS-CLIP	23824327
MIRT641127	hsa-miR-3176	HITS-CLIP	23824327
MIRT641126	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT641125	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT641124	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT641123	hsa-miR-6131	HITS-CLIP	23824327
MIRT641122	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT641121	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT641120	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641119	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641118	hsa-miR-548s	HITS-CLIP	23824327
MIRT641117	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT641116	hsa-miR-588	HITS-CLIP	23824327
MIRT641115	hsa-miR-4435	HITS-CLIP	23824327
MIRT641114	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT641113	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT641112	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT641111	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT499675	hsa-miR-3925-5p	PAR-CLIP	24398324
MIRT499674	hsa-miR-3123	PAR-CLIP	24398324
MIRT499673	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT499672	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT499671	hsa-miR-3121-5p	PAR-CLIP	24398324
MIRT499670	hsa-miR-3124-3p	PAR-CLIP	24398324
MIRT499668	hsa-miR-4640-5p	PAR-CLIP	24398324
MIRT499669	hsa-miR-4726-5p	PAR-CLIP	24398324
MIRT499667	hsa-miR-6508-3p	PAR-CLIP	24398324
MIRT499666	hsa-miR-4451	PAR-CLIP	24398324
MIRT499665	hsa-miR-6832-5p	PAR-CLIP	24398324
MIRT499664	hsa-miR-6724-5p	PAR-CLIP	24398324
MIRT499663	hsa-miR-6773-5p	PAR-CLIP	24398324
MIRT450015	hsa-miR-6757-3p	PAR-CLIP	22100165
MIRT450014	hsa-miR-3117-5p	PAR-CLIP	22100165
MIRT450013	hsa-miR-514a-3p	PAR-CLIP	22100165
MIRT450012	hsa-miR-514b-3p	PAR-CLIP	22100165
MIRT641132	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT641131	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT641130	hsa-miR-8073	HITS-CLIP	23824327
MIRT641129	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641128	hsa-miR-5695	HITS-CLIP	23824327
MIRT641127	hsa-miR-3176	HITS-CLIP	23824327
MIRT641126	hsa-miR-3922-3p	HITS-CLIP	23824327
MIRT641125	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT641124	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT641123	hsa-miR-6131	HITS-CLIP	23824327
MIRT641122	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT641121	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT641120	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641119	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641118	hsa-miR-548s	HITS-CLIP	23824327
MIRT641117	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT641116	hsa-miR-588	HITS-CLIP	23824327
MIRT641115	hsa-miR-4435	HITS-CLIP	23824327
MIRT641114	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT641113	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT641112	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT641111	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT499675	hsa-miR-3925-5p	PAR-CLIP	24398324
MIRT499674	hsa-miR-3123	PAR-CLIP	24398324
MIRT499673	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT499672	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT499671	hsa-miR-3121-5p	PAR-CLIP	24398324
MIRT499670	hsa-miR-3124-3p	PAR-CLIP	24398324
MIRT499668	hsa-miR-4640-5p	PAR-CLIP	24398324
MIRT499669	hsa-miR-4726-5p	PAR-CLIP	24398324
MIRT499667	hsa-miR-6508-3p	PAR-CLIP	24398324
MIRT499666	hsa-miR-4451	PAR-CLIP	24398324
MIRT499665	hsa-miR-6832-5p	PAR-CLIP	24398324
MIRT499664	hsa-miR-6724-5p	PAR-CLIP	24398324
MIRT499663	hsa-miR-6773-5p	PAR-CLIP	24398324
MIRT450015	hsa-miR-6757-3p	PAR-CLIP	22100165
MIRT450014	hsa-miR-3117-5p	PAR-CLIP	22100165
MIRT450013	hsa-miR-514a-3p	PAR-CLIP	22100165
MIRT450012	hsa-miR-514b-3p	PAR-CLIP	22100165
MIRT1190702	hsa-let-7a	CLIP-seq
MIRT1190703	hsa-let-7b	CLIP-seq
MIRT1190704	hsa-let-7c	CLIP-seq
MIRT1190705	hsa-let-7d	CLIP-seq
MIRT1190706	hsa-let-7e	CLIP-seq
MIRT1190707	hsa-let-7f	CLIP-seq
MIRT1190708	hsa-let-7g	CLIP-seq
MIRT1190709	hsa-let-7i	CLIP-seq
MIRT1190710	hsa-miR-103a	CLIP-seq
MIRT1190711	hsa-miR-106a	CLIP-seq
MIRT1190712	hsa-miR-106b	CLIP-seq
MIRT1190713	hsa-miR-107	CLIP-seq
MIRT1190714	hsa-miR-1252	CLIP-seq
MIRT1190715	hsa-miR-1258	CLIP-seq
MIRT1190716	hsa-miR-1261	CLIP-seq
MIRT1190717	hsa-miR-1295	CLIP-seq
MIRT1190718	hsa-miR-129-5p	CLIP-seq
MIRT1190719	hsa-miR-1304	CLIP-seq
MIRT1190720	hsa-miR-17	CLIP-seq
MIRT1190721	hsa-miR-186	CLIP-seq
MIRT1190722	hsa-miR-197	CLIP-seq
MIRT1190723	hsa-miR-202	CLIP-seq
MIRT1190724	hsa-miR-20a	CLIP-seq
MIRT1190725	hsa-miR-20b	CLIP-seq
MIRT1190726	hsa-miR-31	CLIP-seq
MIRT1190727	hsa-miR-3125	CLIP-seq
MIRT1190728	hsa-miR-3133	CLIP-seq
MIRT1190729	hsa-miR-3149	CLIP-seq
MIRT1190730	hsa-miR-3189-3p	CLIP-seq
MIRT1190731	hsa-miR-323b-3p	CLIP-seq
MIRT1190732	hsa-miR-3609	CLIP-seq
MIRT1190733	hsa-miR-3618	CLIP-seq
MIRT1190734	hsa-miR-362-5p	CLIP-seq
MIRT1190735	hsa-miR-3646	CLIP-seq
MIRT1190736	hsa-miR-3653	CLIP-seq
MIRT1190737	hsa-miR-374a	CLIP-seq
MIRT1190738	hsa-miR-374b	CLIP-seq
MIRT1190739	hsa-miR-380	CLIP-seq
MIRT1190740	hsa-miR-3916	CLIP-seq
MIRT1190741	hsa-miR-3927	CLIP-seq
MIRT1190742	hsa-miR-3944-5p	CLIP-seq
MIRT1190743	hsa-miR-411	CLIP-seq
MIRT1190744	hsa-miR-4267	CLIP-seq
MIRT1190745	hsa-miR-4268	CLIP-seq
MIRT1190746	hsa-miR-4270	CLIP-seq
MIRT1190747	hsa-miR-4274	CLIP-seq
MIRT1190748	hsa-miR-4320	CLIP-seq
MIRT1190749	hsa-miR-433	CLIP-seq
MIRT1190750	hsa-miR-4428	CLIP-seq
MIRT1190751	hsa-miR-4441	CLIP-seq
MIRT1190752	hsa-miR-4448	CLIP-seq
MIRT1190753	hsa-miR-4458	CLIP-seq
MIRT1190754	hsa-miR-4474-3p	CLIP-seq
MIRT1190755	hsa-miR-4500	CLIP-seq
MIRT1190756	hsa-miR-4519	CLIP-seq
MIRT1190757	hsa-miR-451b	CLIP-seq
MIRT1190758	hsa-miR-4529-5p	CLIP-seq
MIRT1190759	hsa-miR-4661-3p	CLIP-seq
MIRT1190760	hsa-miR-4666-5p	CLIP-seq
MIRT1190761	hsa-miR-4708-3p	CLIP-seq
MIRT1190762	hsa-miR-4709-3p	CLIP-seq
MIRT1190763	hsa-miR-4711-3p	CLIP-seq
MIRT1190764	hsa-miR-4716-5p	CLIP-seq
MIRT1190765	hsa-miR-4717-5p	CLIP-seq
MIRT1190766	hsa-miR-4733-3p	CLIP-seq
MIRT1190767	hsa-miR-4735-5p	CLIP-seq
MIRT1190768	hsa-miR-4775	CLIP-seq
MIRT1190769	hsa-miR-4778-3p	CLIP-seq
MIRT1190770	hsa-miR-4796-3p	CLIP-seq
MIRT1190771	hsa-miR-485-3p	CLIP-seq
MIRT1190772	hsa-miR-500b	CLIP-seq
MIRT1190773	hsa-miR-5096	CLIP-seq
MIRT1190774	hsa-miR-519a	CLIP-seq
MIRT1190775	hsa-miR-519b-3p	CLIP-seq
MIRT1190776	hsa-miR-519c-3p	CLIP-seq
MIRT1190777	hsa-miR-519d	CLIP-seq
MIRT1190778	hsa-miR-548a-5p	CLIP-seq
MIRT1190779	hsa-miR-548ab	CLIP-seq
MIRT1190780	hsa-miR-548ag	CLIP-seq
MIRT1190781	hsa-miR-548ah	CLIP-seq
MIRT1190782	hsa-miR-548ai	CLIP-seq
MIRT1190783	hsa-miR-548ak	CLIP-seq
MIRT1190784	hsa-miR-548b-5p	CLIP-seq
MIRT1190785	hsa-miR-548c-5p	CLIP-seq
MIRT1190786	hsa-miR-548d-5p	CLIP-seq
MIRT1190787	hsa-miR-548h	CLIP-seq
MIRT1190788	hsa-miR-548i	CLIP-seq
MIRT1190789	hsa-miR-548j	CLIP-seq
MIRT1190790	hsa-miR-548k	CLIP-seq
MIRT1190791	hsa-miR-548l	CLIP-seq
MIRT1190792	hsa-miR-548m	CLIP-seq
MIRT1190793	hsa-miR-548w	CLIP-seq
MIRT1190794	hsa-miR-548y	CLIP-seq
MIRT1190795	hsa-miR-559	CLIP-seq
MIRT1190796	hsa-miR-562	CLIP-seq
MIRT1190797	hsa-miR-576-5p	CLIP-seq
MIRT1190798	hsa-miR-577	CLIP-seq
MIRT1190799	hsa-miR-578	CLIP-seq
MIRT1190800	hsa-miR-581	CLIP-seq
MIRT1190801	hsa-miR-590-3p	CLIP-seq
MIRT1190802	hsa-miR-595	CLIP-seq
MIRT1190803	hsa-miR-644	CLIP-seq
MIRT1190804	hsa-miR-651	CLIP-seq
MIRT1190805	hsa-miR-758	CLIP-seq
MIRT1190806	hsa-miR-93	CLIP-seq
MIRT1190807	hsa-miR-934	CLIP-seq
MIRT1190808	hsa-miR-98	CLIP-seq
MIRT1190710	hsa-miR-103a	CLIP-seq
MIRT1190713	hsa-miR-107	CLIP-seq
MIRT1190719	hsa-miR-1304	CLIP-seq
MIRT2055224	hsa-miR-134	CLIP-seq
MIRT2055225	hsa-miR-3118	CLIP-seq
MIRT2055226	hsa-miR-3164	CLIP-seq
MIRT1190742	hsa-miR-3944-5p	CLIP-seq
MIRT1190746	hsa-miR-4270	CLIP-seq
MIRT1190748	hsa-miR-4320	CLIP-seq
MIRT2055227	hsa-miR-4420	CLIP-seq
MIRT2055228	hsa-miR-4438	CLIP-seq
MIRT1190751	hsa-miR-4441	CLIP-seq
MIRT1190770	hsa-miR-4796-3p	CLIP-seq
MIRT2055229	hsa-miR-5095	CLIP-seq
MIRT1190799	hsa-miR-578	CLIP-seq
MIRT1190800	hsa-miR-581	CLIP-seq
MIRT1190805	hsa-miR-758	CLIP-seq
MIRT1190710	hsa-miR-103a	CLIP-seq
MIRT1190711	hsa-miR-106a	CLIP-seq
MIRT1190712	hsa-miR-106b	CLIP-seq
MIRT1190713	hsa-miR-107	CLIP-seq
MIRT2284174	hsa-miR-1200	CLIP-seq
MIRT1190718	hsa-miR-129-5p	CLIP-seq
MIRT1190719	hsa-miR-1304	CLIP-seq
MIRT2055224	hsa-miR-134	CLIP-seq
MIRT1190720	hsa-miR-17	CLIP-seq
MIRT1190721	hsa-miR-186	CLIP-seq
MIRT1190722	hsa-miR-197	CLIP-seq
MIRT1190724	hsa-miR-20a	CLIP-seq
MIRT1190725	hsa-miR-20b	CLIP-seq
MIRT2055225	hsa-miR-3118	CLIP-seq
MIRT1190729	hsa-miR-3149	CLIP-seq
MIRT2284175	hsa-miR-3159	CLIP-seq
MIRT2055226	hsa-miR-3164	CLIP-seq
MIRT1190732	hsa-miR-3609	CLIP-seq
MIRT1190742	hsa-miR-3944-5p	CLIP-seq
MIRT1190743	hsa-miR-411	CLIP-seq
MIRT1190744	hsa-miR-4267	CLIP-seq
MIRT1190746	hsa-miR-4270	CLIP-seq
MIRT1190748	hsa-miR-4320	CLIP-seq
MIRT2284176	hsa-miR-4324	CLIP-seq
MIRT1190749	hsa-miR-433	CLIP-seq
MIRT2055227	hsa-miR-4420	CLIP-seq
MIRT2055228	hsa-miR-4438	CLIP-seq
MIRT1190751	hsa-miR-4441	CLIP-seq
MIRT2284177	hsa-miR-4663	CLIP-seq
MIRT2284178	hsa-miR-4682	CLIP-seq
MIRT1190764	hsa-miR-4716-5p	CLIP-seq
MIRT1190766	hsa-miR-4733-3p	CLIP-seq
MIRT1190767	hsa-miR-4735-5p	CLIP-seq
MIRT1190768	hsa-miR-4775	CLIP-seq
MIRT2284179	hsa-miR-4787-3p	CLIP-seq
MIRT1190770	hsa-miR-4796-3p	CLIP-seq
MIRT2284180	hsa-miR-491-3p	CLIP-seq
MIRT2284181	hsa-miR-498	CLIP-seq
MIRT2055229	hsa-miR-5095	CLIP-seq
MIRT1190773	hsa-miR-5096	CLIP-seq
MIRT1190774	hsa-miR-519a	CLIP-seq
MIRT1190775	hsa-miR-519b-3p	CLIP-seq
MIRT1190776	hsa-miR-519c-3p	CLIP-seq
MIRT1190777	hsa-miR-519d	CLIP-seq
MIRT2284182	hsa-miR-544b	CLIP-seq
MIRT1190781	hsa-miR-548ah	CLIP-seq
MIRT2284183	hsa-miR-572	CLIP-seq
MIRT1190799	hsa-miR-578	CLIP-seq
MIRT1190800	hsa-miR-581	CLIP-seq
MIRT1190801	hsa-miR-590-3p	CLIP-seq
MIRT2284184	hsa-miR-628-5p	CLIP-seq
MIRT1190805	hsa-miR-758	CLIP-seq
MIRT1190806	hsa-miR-93	CLIP-seq
MIRT1190702	hsa-let-7a	CLIP-seq
MIRT1190703	hsa-let-7b	CLIP-seq
MIRT1190704	hsa-let-7c	CLIP-seq
MIRT1190705	hsa-let-7d	CLIP-seq
MIRT1190706	hsa-let-7e	CLIP-seq
MIRT1190707	hsa-let-7f	CLIP-seq
MIRT1190708	hsa-let-7g	CLIP-seq
MIRT1190709	hsa-let-7i	CLIP-seq
MIRT2582242	hsa-miR-103b	CLIP-seq
MIRT2284174	hsa-miR-1200	CLIP-seq
MIRT1190718	hsa-miR-129-5p	CLIP-seq
MIRT1190719	hsa-miR-1304	CLIP-seq
MIRT1190721	hsa-miR-186	CLIP-seq
MIRT1190723	hsa-miR-202	CLIP-seq
MIRT2582243	hsa-miR-216a	CLIP-seq
MIRT2582244	hsa-miR-2681	CLIP-seq
MIRT1190726	hsa-miR-31	CLIP-seq
MIRT1190727	hsa-miR-3125	CLIP-seq
MIRT2284175	hsa-miR-3159	CLIP-seq
MIRT2582245	hsa-miR-3670	CLIP-seq
MIRT2582246	hsa-miR-371b-5p	CLIP-seq
MIRT1190740	hsa-miR-3916	CLIP-seq
MIRT1190741	hsa-miR-3927	CLIP-seq
MIRT1190744	hsa-miR-4267	CLIP-seq
MIRT2284176	hsa-miR-4324	CLIP-seq
MIRT2582247	hsa-miR-4436b-5p	CLIP-seq
MIRT2055228	hsa-miR-4438	CLIP-seq
MIRT1190753	hsa-miR-4458	CLIP-seq
MIRT1190755	hsa-miR-4500	CLIP-seq
MIRT1190757	hsa-miR-451b	CLIP-seq
MIRT2284177	hsa-miR-4663	CLIP-seq
MIRT2284178	hsa-miR-4682	CLIP-seq
MIRT1190761	hsa-miR-4708-3p	CLIP-seq
MIRT1190766	hsa-miR-4733-3p	CLIP-seq
MIRT1190767	hsa-miR-4735-5p	CLIP-seq
MIRT2582248	hsa-miR-4738-3p	CLIP-seq
MIRT1190768	hsa-miR-4775	CLIP-seq
MIRT2284179	hsa-miR-4787-3p	CLIP-seq
MIRT2582249	hsa-miR-490-5p	CLIP-seq
MIRT2284181	hsa-miR-498	CLIP-seq
MIRT2055229	hsa-miR-5095	CLIP-seq
MIRT2582250	hsa-miR-526b	CLIP-seq
MIRT2284182	hsa-miR-544b	CLIP-seq
MIRT1190778	hsa-miR-548a-5p	CLIP-seq
MIRT1190779	hsa-miR-548ab	CLIP-seq
MIRT1190783	hsa-miR-548ak	CLIP-seq
MIRT1190784	hsa-miR-548b-5p	CLIP-seq
MIRT1190785	hsa-miR-548c-5p	CLIP-seq
MIRT1190786	hsa-miR-548d-5p	CLIP-seq
MIRT1190787	hsa-miR-548h	CLIP-seq
MIRT1190788	hsa-miR-548i	CLIP-seq
MIRT1190789	hsa-miR-548j	CLIP-seq
MIRT1190790	hsa-miR-548k	CLIP-seq
MIRT1190791	hsa-miR-548l	CLIP-seq
MIRT1190793	hsa-miR-548w	CLIP-seq
MIRT1190794	hsa-miR-548y	CLIP-seq
MIRT1190795	hsa-miR-559	CLIP-seq
MIRT1190796	hsa-miR-562	CLIP-seq
MIRT1190801	hsa-miR-590-3p	CLIP-seq
MIRT2284184	hsa-miR-628-5p	CLIP-seq
MIRT1190808	hsa-miR-98	CLIP-seq
MIRT1190702	hsa-let-7a	CLIP-seq
MIRT1190703	hsa-let-7b	CLIP-seq
MIRT1190704	hsa-let-7c	CLIP-seq
MIRT1190705	hsa-let-7d	CLIP-seq
MIRT1190706	hsa-let-7e	CLIP-seq
MIRT1190707	hsa-let-7f	CLIP-seq
MIRT1190708	hsa-let-7g	CLIP-seq
MIRT1190709	hsa-let-7i	CLIP-seq
MIRT2582242	hsa-miR-103b	CLIP-seq
MIRT2284174	hsa-miR-1200	CLIP-seq
MIRT1190719	hsa-miR-1304	CLIP-seq
MIRT1190723	hsa-miR-202	CLIP-seq
MIRT2582243	hsa-miR-216a	CLIP-seq
MIRT1190726	hsa-miR-31	CLIP-seq
MIRT1190727	hsa-miR-3125	CLIP-seq
MIRT2284175	hsa-miR-3159	CLIP-seq
MIRT1190740	hsa-miR-3916	CLIP-seq
MIRT1190741	hsa-miR-3927	CLIP-seq
MIRT1190744	hsa-miR-4267	CLIP-seq
MIRT2284176	hsa-miR-4324	CLIP-seq
MIRT2582247	hsa-miR-4436b-5p	CLIP-seq
MIRT2055228	hsa-miR-4438	CLIP-seq
MIRT1190753	hsa-miR-4458	CLIP-seq
MIRT1190755	hsa-miR-4500	CLIP-seq
MIRT1190757	hsa-miR-451b	CLIP-seq
MIRT2284177	hsa-miR-4663	CLIP-seq
MIRT2284178	hsa-miR-4682	CLIP-seq
MIRT1190761	hsa-miR-4708-3p	CLIP-seq
MIRT1190766	hsa-miR-4733-3p	CLIP-seq
MIRT2582248	hsa-miR-4738-3p	CLIP-seq
MIRT2284179	hsa-miR-4787-3p	CLIP-seq
MIRT2284181	hsa-miR-498	CLIP-seq
MIRT2055229	hsa-miR-5095	CLIP-seq
MIRT2582250	hsa-miR-526b	CLIP-seq
MIRT2284182	hsa-miR-544b	CLIP-seq
MIRT1190778	hsa-miR-548a-5p	CLIP-seq
MIRT1190779	hsa-miR-548ab	CLIP-seq
MIRT1190783	hsa-miR-548ak	CLIP-seq
MIRT1190784	hsa-miR-548b-5p	CLIP-seq
MIRT1190785	hsa-miR-548c-5p	CLIP-seq
MIRT1190786	hsa-miR-548d-5p	CLIP-seq
MIRT1190787	hsa-miR-548h	CLIP-seq
MIRT1190788	hsa-miR-548i	CLIP-seq
MIRT1190789	hsa-miR-548j	CLIP-seq
MIRT1190790	hsa-miR-548k	CLIP-seq
MIRT1190791	hsa-miR-548l	CLIP-seq
MIRT1190793	hsa-miR-548w	CLIP-seq
MIRT1190794	hsa-miR-548y	CLIP-seq
MIRT1190795	hsa-miR-559	CLIP-seq
MIRT1190796	hsa-miR-562	CLIP-seq
MIRT2284184	hsa-miR-628-5p	CLIP-seq
MIRT1190808	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IBA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IMP	20007846
GO:0001947	Process	Heart looping	IMP	18371931, 20007846
GO:0003283	Process	Atrial septum development	IMP	18371931
GO:0005515	Function	Protein binding	IPI	12872122, 18371931, 22085962, 22863007, 22960633, 23418306, 27173435, 29959317, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA	20462968, 22085962
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007368	Process	Determination of left/right symmetry	IBA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	18371931
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030324	Process	Lung development	IMP	20007846
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	20007846
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	12872122
GO:0048496	Process	Maintenance of animal organ identity	IEA
GO:0048496	Process	Maintenance of animal organ identity	IMP	12872122
GO:0060026	Process	Convergent extension	IBA
GO:0060027	Process	Convergent extension involved in gastrulation	IGI	18371931
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IC
GO:0060993	Process	Kidney morphogenesis	IBA
GO:0060993	Process	Kidney morphogenesis	IEA
GO:0060993	Process	Kidney morphogenesis	IMP	18371931
GO:0071908	Process	Determination of intestine left/right asymmetry	IMP	20007846
GO:0071909	Process	Determination of stomach left/right asymmetry	IMP	18371931
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	20007846
GO:0072189	Process	Ureter development	IMP	18371931
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	18371931
GO:0097543	Component	Ciliary inversin compartment	IBA
GO:0097543	Component	Ciliary inversin compartment	IEA
GO:0097546	Component	Ciliary base	IBA
GO:0097546	Component	Ciliary base	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:2000095	Process	Regulation of Wnt signaling pathway, planar cell polarity pathway	IDA	18371931
GO:2000095	Process	Regulation of Wnt signaling pathway, planar cell polarity pathway	ISS

Other IDs

• MIM: 608002
• HGNC: 7907
• e!Ensembl: ENSG00000113971

Protein

• UniProt ID: Q7Z494
• Protein name: Nephrocystin-3
• Protein function: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a
• PDB: 5L7K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13424	TPR_12	941 → 1017		Repeat
  PF13424	TPR_12	999 → 1059		Repeat
  PF13424	TPR_12	1116 → 1167		Repeat
  PF13424	TPR_12	1133 → 1209		Repeat
  PF13424	TPR_12	1175 → 1251		Repeat
  PF13424	TPR_12	1217 → 1293		Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. {ECO:0000269|PubMed:12872122}.
• Sequence:

  MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSL
  PRGVGAGGLLGASFKSTGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLD
  TENKRLRAELQALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKE
  NEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSE
  PSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTV
  RCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKS
  SLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNK
  TSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDV
  LWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLL
  SKWIQLQQKNSPNTLILSHFVGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLL
  EEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLIDPLPVNVRVIVSVNVETCPPA
  WRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGK
  MIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHN
  GVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTV
  TSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGH
  FAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLS
  QAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYG
  ADHPYTARELEALATLYQKQNKYEQAEHFRKKSFKIHQKAIKKKGNLYGFALLRRRALQL
  EELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSLEMRERVLGPDHPDCAQSLNN
  LAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
  ELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRV
  GETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHS
  PNVFLQQGQR

• Sequence length: 1330

Pathways

Reactome:

Trafficking of myristoylated proteins to the cilium

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
Anhydramnios	Likely pathogenic	rs2107974557, rs2107963405	RCV001807668 RCV001807669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital anomaly of kidney and urinary tract	Likely pathogenic; Pathogenic	rs1379989124	RCV005626191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enlarged kidney	Likely pathogenic	rs2107974557, rs2107963405	RCV001807668 RCV001807669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrotic kidney disease	Likely pathogenic	rs2530438233	RCV003326037	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs398124546, rs2108007892, rs2108008280, rs267606916, rs901182419, rs751527253, rs1553773296, rs1007848349	RCV002281916 RCV001844766 RCV002223039 RCV002281691 RCV003111793 RCV005893737 RCV003117365 RCV002298907	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple renal cysts	Likely pathogenic	rs2107974557, rs2107963405	RCV001807668 RCV001807669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs1322038132, rs398124546, rs368138001, rs1363032805, rs1277862520, rs746849675, rs1939234862, rs2107971687, rs757578685, rs919854764, rs1311592052, rs547310372, rs754332448, rs2107976854, rs1349623728, rs2107990671, rs2107961294, rs773760404, rs758716466, rs780165789, rs1280230808, rs1395411307, rs2107963367, rs2107996325, rs777768843, rs119456959, rs119456961, rs119456962, rs267606916, rs2530415541, rs2530376896, rs758558609, rs763300393, rs750728720, rs901182419, rs764420831, rs1940239843, rs2530377308, rs2530385906, rs2530455248, rs1171578361, rs751828098, rs182135982, rs758498695, rs2530464286, rs780683528, rs1240851280, rs1939183391, rs751527253, rs869312915, rs2530374916, rs2530522078, rs2530438512, rs2530394726, rs2530375232, rs2530464195, rs771215577, rs771742823, rs773521620, rs1553773271, rs747052534, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1379989124, rs1485445500, rs1576682880, rs780020801, rs1560002113, rs1939543636, rs780148543, rs1007848349, rs1940156340, rs148670389, rs1459151671, rs1939045407, rs760831781, rs1281725083	RCV002546393 RCV002513853 RCV001246215 RCV001376909 RCV001378465 RCV001381484 RCV001383773 RCV001383312 RCV001388354 RCV001382434 RCV001383457 RCV002004224 RCV001959484 RCV001999781 RCV001950768 RCV001910966 RCV002037761 RCV001939549 RCV001941971 RCV001942056 RCV002050529 RCV002031859 RCV001886051 RCV001958703 RCV001940054 RCV000234820 RCV001389821 RCV001239221 RCV000234832 RCV003065311 RCV003061387 RCV001390246 RCV001852163 RCV002644106 RCV002637466 RCV003108974 RCV002575303 RCV002634833 RCV002746047 RCV002760947 RCV002847080 RCV002862639 RCV002914017 RCV000196484 RCV000197404 RCV002967865 RCV003011574 RCV003043960 RCV003036844 RCV000205615 RCV002517434 RCV003587510 RCV003749812 RCV003749786 RCV003852160 RCV003871723 RCV004018273 RCV000464051 RCV002527119 RCV000539283 RCV000558855 RCV001854072 RCV000694553 RCV000692576 RCV000691536 RCV000692736 RCV000692127 RCV001228010 RCV003748283 RCV000816986 RCV005092537 RCV001057754 RCV001037049 RCV001052653 RCV001220697 RCV001217259 RCV001205716 RCV001215419 RCV001232674 RCV001328312 RCV001863162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 3	Likely pathogenic; Pathogenic	rs1322038132, rs398124546, rs368138001, rs746849675, rs775281384, rs754332448, rs773760404, rs758716466, rs1280230808, rs119456959, rs119456960, rs119456961, rs119456964, rs267606916, rs2530376896, rs763300393, rs2530455248, rs1171578361, rs182135982, rs751527253, rs886041990, rs774573183, rs2530496903, rs1060499938, rs771742823, rs1553773271, rs1332659264, rs747052534, rs1560002147, rs201237799, rs1560014115, rs1485445500, rs1576682880, rs780020801, rs1576660495, rs759262253, rs1560002113, rs780148543, rs1939111919, rs148670389, rs746059113, rs1940240492, rs760831781, rs1281725083	RCV005038085 RCV004593987 RCV002483155 RCV005038179 RCV001391120 RCV005025546 RCV002497873 RCV002492123 RCV002503351 RCV000002750 RCV000002751 RCV000002752 RCV005024993 RCV000002759 RCV005028189 RCV001281248 RCV005869920 RCV005027989 RCV000763096 RCV000593585 RCV005031848 RCV005030021 RCV004577606 RCV000456125 RCV000579387 RCV002497109 RCV002497265 RCV002506426 RCV005034301 RCV002485656 RCV005027917 RCV000785914 RCV001281190 RCV005036237 RCV000985079 RCV001003471 RCV005029634 RCV002505602 RCV001175217 RCV002504239 RCV001281192 RCV001281194 RCV001797833 RCV004796412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NPHP3-related disorder	Likely pathogenic; Pathogenic	rs398124546, rs773760404, rs119456962, rs267606916, rs758558609, rs751527253, rs2530401396, rs2530433517, rs774573183, rs2530385996, rs747052534, rs758238787, rs1379989124, rs1485445500, rs1576660495, rs780148543, rs148670389, rs1281725083	RCV004528299 RCV004741167 RCV005222661 RCV005222662 RCV004539598 RCV004530240 RCV003335915 RCV004529359 RCV004531734 RCV004542622 RCV003336089 RCV004535722 RCV004527767 RCV004740448 RCV005225176 RCV004740551 RCV004528417 RCV003336373	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NPHP3-related Meckel-like syndrome	Likely pathogenic; Pathogenic	rs1322038132, rs398124546, rs368138001, rs746849675, rs775281384, rs1404621140, rs754332448, rs773760404, rs758716466, rs1280230808, rs119456959, rs119456961, rs119456962, rs119456964, rs267606916, rs2530376896, rs763300393, rs1171578361, rs182135982, rs751527253, rs886041990, rs774573183, rs2530496903, rs769291880, rs1553773271, rs1332659264, rs747052534, rs1560002147, rs201237799, rs1560014115, rs1485445500, rs780020801, rs1576660495, rs759262253, rs1560002113, rs780148543, rs148670389, rs1281725083	RCV005038085 RCV005031572 RCV002483155 RCV005038179 RCV002476735 RCV001836676 RCV005025546 RCV002497873 RCV002492123 RCV002503351 RCV002490298 RCV001197494 RCV000002755 RCV005024993 RCV001330459 RCV005028189 RCV002500482 RCV005027989 RCV000763096 RCV000002753 RCV005031848 RCV005030021 RCV004011332 RCV004017212 RCV002497109 RCV002497265 RCV002506426 RCV005034301 RCV002485656 RCV005027917 RCV002507353 RCV000855407 RCV001330463 RCV002481806 RCV005029634 RCV002505602 RCV002504239 RCV004796412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease	Likely pathogenic; Pathogenic	rs751527253	RCV000256425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal-hepatic-pancreatic dysplasia 1	Likely pathogenic; Pathogenic	rs1322038132, rs398124546, rs368138001, rs746849675, rs775281384, rs754332448, rs773760404, rs758716466, rs1280230808, rs2530433595, rs2530522907, rs119456959, rs119456961, rs119456964, rs267606916, rs2530376896, rs763300393, rs1171578361, rs182135982, rs751527253, rs886041990, rs2530380429, rs774573183, rs1553773271, rs1332659264, rs747052534, rs1560002147, rs201237799, rs1560014115, rs1485445500, rs780020801, rs759262253, rs1560002113, rs780148543, rs148670389, rs1281725083	RCV005038085 RCV005031572 RCV002483155 RCV005038179 RCV002476735 RCV005025546 RCV002497873 RCV002492123 RCV002503351 RCV002284321 RCV002285076 RCV002490298 RCV002496236 RCV000002757 RCV002496237 RCV005028189 RCV002500482 RCV005027989 RCV000763096 RCV000055628 RCV005031848 RCV003340726 RCV005030021 RCV002497109 RCV002497265 RCV002506426 RCV005034301 RCV002485656 RCV005027917 RCV002507353 RCV001809864 RCV002481806 RCV005029634 RCV002505602 RCV002504239 RCV004796412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MECKEL SYNDROME, TYPE 7	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel-Gruber syndrome	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHRONOPHTHISIS 2	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal dysplasia and retinal aplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	CTD_human_DG	12089381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	18371931		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31048733	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38179759	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11134256, 19177160		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	20007846, 21068128, 34212438	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	21845392, 24776604, 28921755		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	26184788		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	23686967		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	11134256, 19303681, 20462968		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	19303681, 20462968		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	12872122, 18371931		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	33518654	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis Congenital	Hepatic fibrosis	Pubtator	34212438	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus, Normal Pressure	Hydrocephalus	BEFREE	10966501		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	34212438	Associate	★☆☆☆☆ Found in Text Mining only
Infantile nephronophthisis	Nephronophthisis	Orphanet			★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	29575630		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19177160, 30002499	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11134256, 19177160		★☆☆☆☆ Found in Text Mining only
Late-onset nephronophthisis	Nephronophthisis	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36227438	Associate	★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Medullary cystic kidney disease 1	Medullary Cystic Kidney Disease	BEFREE	10966501, 11261687		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	11134256, 11261687, 11274269, 12234310, 12872122, 18371931, 20462968, 23686967, 23793029, 28921755		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	CLINVAR_DG	12872122, 18371931, 19177160, 19303681, 20007846, 23559409, 26673778		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 1	Nephronophthisis	BEFREE	12234310		★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 2	Nephronophthisis	ORPHANET_DG	18371931, 26184788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 2	Nephronophthisis	BEFREE	19177160, 26184788, 29869359		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis 2	Nephronophthisis	Pubtator	19177160	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 3	Nephronophthisis	BEFREE	11134256, 12438707, 16724659, 19177160, 20007846, 31048733		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 3	Nephronophthisis	UNIPROT_DG	12872122		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 3	Nephronophthisis	GENOMICS_ENGLAND_DG	12872122		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 3	Nephronophthisis	Pubtator	19177160, 20007846	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 3	Nephronophthisis	CLINVAR_DG	28921755		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 3	Nephronophthisis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	12205563, 12234310, 17617513, 18076122, 34212438	Associate	★☆☆☆☆ Found in Text Mining only
NPHP3-related Meckel-like syndrome	Meckel-Like Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	12872122, 20462968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28403887	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal corticomedullary cysts	Renal corticomedullary cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	20007846		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	22819833		★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	GENOMICS_ENGLAND_DG	12872122		★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	ORPHANET_DG	18371931		★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal hepatic pancreatic dysplasia Dandy Walker cyst	Meckel syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA	RENAL-HEPATIC-PANCREATIC DYSPLASIA	BEFREE	18371931, 20007846, 23438674, 23686967		★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA	RENAL-HEPATIC-PANCREATIC DYSPLASIA	ORPHANET_DG	18371931, 20007846		★☆☆☆☆ Found in Text Mining only
Renal-hepatic-pancreatic dysplasia	RENAL-HEPATIC-PANCREATIC DYSPLASIA	Orphanet			★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA	RENAL-HEPATIC-PANCREATIC DYSPLASIA	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1	RENAL-HEPATIC-PANCREATIC DYSPLASIA	GENOMICS_ENGLAND_DG	12872122, 23686967		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1	RENAL-HEPATIC-PANCREATIC DYSPLASIA	CLINVAR_DG	18371931, 20007846, 27894351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1	RENAL-HEPATIC-PANCREATIC DYSPLASIA	UNIPROT_DG	18371931		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1	RENAL-HEPATIC-PANCREATIC DYSPLASIA	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal Diseases	Retinal Diseases	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	18371931		★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs Inversus	Situs Inversus	BEFREE	18371931, 20462968		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	CLINVAR_DG	18371931, 20007846, 27894351		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	BEFREE	12438707		★☆☆☆☆ Found in Text Mining only