AHI1 (Abelson helper integration site 1)

Gene

• Entrez ID: 54806
• Gene name: Abelson helper integration site 1
• Gene symbol: AHI1
• Synonyms (NCBI Gene): AHI-1, JBTS3, ORF1, dJ71N10.1
• Chromosome: 6
• Chromosome location: 6q23.3
• Summary: This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with sev

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41288013	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs41288017	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs117447608	G>A	Benign-likely-benign, likely-pathogenic, benign	Non coding transcript variant, genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs121434348	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121434349	G>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs121434350	A>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121434351	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs139944375	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs148000791	T>C	Likely-pathogenic, likely-benign, benign, benign-likely-benign	Genic downstream transcript variant, coding sequence variant, intron variant, missense variant, non coding transcript variant
rs183936286	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs187245292	C>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs199879855	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs201391050	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs267606641	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs368788993	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs371637724	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs372659908	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs374009466	C>G,T	Likely-benign, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387906270	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs387907003	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397514726	C>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs541041911	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587783013	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs587783014	ACTATAC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs745507530	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs747322175	->T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs751823180	C>A,T	Pathogenic	Splice donor variant
rs753085250	T>C	Pathogenic	Splice acceptor variant
rs753874898	TTT>-,TT,TTTT,TTTTT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, inframe deletion
rs755246809	T>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs755407014	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs764412921	A>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs772289223	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs772989270	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs773278338	->CT	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs776093293	C>A	Pathogenic	Splice donor variant
rs777215595	G>C	Pathogenic, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs777668842	G>A,C	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs780163791	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, stop gained, intron variant, genic downstream transcript variant, coding sequence variant
rs780910490	ACGCATTAGATCAC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs794729195	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045223	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs797045224	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225131	A>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863225132	->CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225133	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225134	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225135	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225136	->CA	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225137	C>T	Pathogenic	Splice donor variant
rs863225138	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs863225139	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225140	TCTCTCATCT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225141	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863225142	T>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs863225143	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863225144	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225145	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225146	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225147	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863225148	->GTAA	Pathogenic	Intron variant
rs886039465	T>A,C	Pathogenic	Splice acceptor variant
rs905262279	AA>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1057524842	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1057524843	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1276908141	C>T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs1554208431	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554209758	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554214237	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554338016	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1554347012	C>A	Pathogenic	Intron variant
rs1554350503	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562219266	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583179845	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1583276758	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019485	hsa-miR-148b-3p	Microarray	17612493
MIRT024212	hsa-miR-218-5p	Sequencing	20371350
MIRT550280	hsa-miR-4517	PAR-CLIP	21572407
MIRT550279	hsa-miR-4678	PAR-CLIP	21572407
MIRT550278	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT550277	hsa-miR-1283	PAR-CLIP	21572407
MIRT550276	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT550275	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT550274	hsa-miR-3618	PAR-CLIP	21572407
MIRT550273	hsa-miR-636	PAR-CLIP	21572407
MIRT550272	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT024212	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT515179	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT515178	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT515176	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT515177	hsa-miR-4438	PAR-CLIP	23446348
MIRT515175	hsa-miR-3159	PAR-CLIP	23446348
MIRT515174	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515173	hsa-miR-4761-5p	PAR-CLIP	23446348
MIRT515172	hsa-miR-6814-5p	PAR-CLIP	23446348
MIRT515171	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT515170	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT515169	hsa-miR-5095	PAR-CLIP	23446348
MIRT515168	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515167	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT550280	hsa-miR-4517	PAR-CLIP	21572407
MIRT550279	hsa-miR-4678	PAR-CLIP	21572407
MIRT550278	hsa-miR-455-5p	PAR-CLIP	21572407
MIRT550277	hsa-miR-1283	PAR-CLIP	21572407
MIRT550276	hsa-miR-4804-3p	PAR-CLIP	21572407
MIRT550275	hsa-miR-4720-3p	PAR-CLIP	21572407
MIRT550274	hsa-miR-3618	PAR-CLIP	21572407
MIRT550273	hsa-miR-636	PAR-CLIP	21572407
MIRT550272	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT024212	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT515179	hsa-miR-18a-5p	PAR-CLIP	23446348
MIRT515178	hsa-miR-18b-5p	PAR-CLIP	23446348
MIRT515176	hsa-miR-4735-3p	PAR-CLIP	23446348
MIRT515177	hsa-miR-4438	PAR-CLIP	23446348
MIRT515175	hsa-miR-3159	PAR-CLIP	23446348
MIRT515174	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515173	hsa-miR-4761-5p	PAR-CLIP	23446348
MIRT515172	hsa-miR-6814-5p	PAR-CLIP	23446348
MIRT515171	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT515170	hsa-miR-6778-3p	PAR-CLIP	23446348
MIRT515169	hsa-miR-5095	PAR-CLIP	23446348
MIRT515168	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515167	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT773585	hsa-miR-299-5p	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773587	hsa-miR-1273f	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773590	hsa-miR-1343	CLIP-seq
MIRT773591	hsa-miR-138	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT773593	hsa-miR-218	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773598	hsa-miR-3155	CLIP-seq
MIRT773599	hsa-miR-3155b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773603	hsa-miR-411	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT773608	hsa-miR-4659a-3p	CLIP-seq
MIRT773609	hsa-miR-4659b-3p	CLIP-seq
MIRT773610	hsa-miR-4694-5p	CLIP-seq
MIRT773611	hsa-miR-4716-5p	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT773613	hsa-miR-4781-3p	CLIP-seq
MIRT773614	hsa-miR-484	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT2471682	hsa-miR-1227	CLIP-seq
MIRT2471683	hsa-miR-1261	CLIP-seq
MIRT2471684	hsa-miR-1270	CLIP-seq
MIRT2471685	hsa-miR-129-5p	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT773590	hsa-miR-1343	CLIP-seq
MIRT2471686	hsa-miR-148a	CLIP-seq
MIRT2471687	hsa-miR-148b	CLIP-seq
MIRT2471688	hsa-miR-152	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT2471689	hsa-miR-2052	CLIP-seq
MIRT2471690	hsa-miR-214	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2471691	hsa-miR-320a	CLIP-seq
MIRT2471692	hsa-miR-320b	CLIP-seq
MIRT2471693	hsa-miR-320c	CLIP-seq
MIRT2471694	hsa-miR-320d	CLIP-seq
MIRT2471695	hsa-miR-3613-3p	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT2471696	hsa-miR-361-5p	CLIP-seq
MIRT2471697	hsa-miR-3619-5p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT2471698	hsa-miR-3672	CLIP-seq
MIRT2471699	hsa-miR-412	CLIP-seq
MIRT2471700	hsa-miR-4252	CLIP-seq
MIRT2471701	hsa-miR-4263	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT2471702	hsa-miR-4291	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT2471703	hsa-miR-4429	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT2471704	hsa-miR-4509	CLIP-seq
MIRT2471705	hsa-miR-452	CLIP-seq
MIRT2471706	hsa-miR-4531	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2471707	hsa-miR-4676-3p	CLIP-seq
MIRT2471708	hsa-miR-4683	CLIP-seq
MIRT2471709	hsa-miR-4687-3p	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT2471710	hsa-miR-4744	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT2471711	hsa-miR-4773	CLIP-seq
MIRT2471712	hsa-miR-4775	CLIP-seq
MIRT2471713	hsa-miR-4787-3p	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2471714	hsa-miR-4799-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT2471715	hsa-miR-532-5p	CLIP-seq
MIRT2471716	hsa-miR-561	CLIP-seq
MIRT2471717	hsa-miR-570	CLIP-seq
MIRT2471718	hsa-miR-576-5p	CLIP-seq
MIRT2471719	hsa-miR-578	CLIP-seq
MIRT2471720	hsa-miR-590-3p	CLIP-seq
MIRT2471721	hsa-miR-607	CLIP-seq
MIRT2471722	hsa-miR-620	CLIP-seq
MIRT2471723	hsa-miR-635	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT2471724	hsa-miR-656	CLIP-seq
MIRT2471725	hsa-miR-761	CLIP-seq
MIRT2471726	hsa-miR-922	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT773586	hsa-miR-122	CLIP-seq
MIRT1928329	hsa-miR-1226	CLIP-seq
MIRT2471683	hsa-miR-1261	CLIP-seq
MIRT773588	hsa-miR-130a	CLIP-seq
MIRT773589	hsa-miR-130b	CLIP-seq
MIRT2471686	hsa-miR-148a	CLIP-seq
MIRT2471687	hsa-miR-148b	CLIP-seq
MIRT2471688	hsa-miR-152	CLIP-seq
MIRT773592	hsa-miR-197	CLIP-seq
MIRT2471689	hsa-miR-2052	CLIP-seq
MIRT773594	hsa-miR-24	CLIP-seq
MIRT773595	hsa-miR-301a	CLIP-seq
MIRT773596	hsa-miR-301b	CLIP-seq
MIRT773597	hsa-miR-3135b	CLIP-seq
MIRT773600	hsa-miR-3170	CLIP-seq
MIRT2443375	hsa-miR-3194-3p	CLIP-seq
MIRT2471691	hsa-miR-320a	CLIP-seq
MIRT2471692	hsa-miR-320b	CLIP-seq
MIRT2471693	hsa-miR-320c	CLIP-seq
MIRT2471694	hsa-miR-320d	CLIP-seq
MIRT2169107	hsa-miR-361-3p	CLIP-seq
MIRT2471696	hsa-miR-361-5p	CLIP-seq
MIRT773601	hsa-miR-3652	CLIP-seq
MIRT773602	hsa-miR-3666	CLIP-seq
MIRT2471698	hsa-miR-3672	CLIP-seq
MIRT2471699	hsa-miR-412	CLIP-seq
MIRT2471701	hsa-miR-4263	CLIP-seq
MIRT773604	hsa-miR-4284	CLIP-seq
MIRT773605	hsa-miR-4295	CLIP-seq
MIRT2443376	hsa-miR-431	CLIP-seq
MIRT2471703	hsa-miR-4429	CLIP-seq
MIRT773606	hsa-miR-4430	CLIP-seq
MIRT2471704	hsa-miR-4509	CLIP-seq
MIRT2471705	hsa-miR-452	CLIP-seq
MIRT773607	hsa-miR-454	CLIP-seq
MIRT2471707	hsa-miR-4676-3p	CLIP-seq
MIRT2471709	hsa-miR-4687-3p	CLIP-seq
MIRT1928330	hsa-miR-4733-3p	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq
MIRT2471710	hsa-miR-4744	CLIP-seq
MIRT773612	hsa-miR-4772-3p	CLIP-seq
MIRT2471711	hsa-miR-4773	CLIP-seq
MIRT2471712	hsa-miR-4775	CLIP-seq
MIRT2471713	hsa-miR-4787-3p	CLIP-seq
MIRT2169108	hsa-miR-4789-5p	CLIP-seq
MIRT2471714	hsa-miR-4799-5p	CLIP-seq
MIRT2169109	hsa-miR-499a-5p	CLIP-seq
MIRT773615	hsa-miR-5096	CLIP-seq
MIRT2471717	hsa-miR-570	CLIP-seq
MIRT2471718	hsa-miR-576-5p	CLIP-seq
MIRT2471719	hsa-miR-578	CLIP-seq
MIRT2471720	hsa-miR-590-3p	CLIP-seq
MIRT2471723	hsa-miR-635	CLIP-seq
MIRT2169110	hsa-miR-642b	CLIP-seq
MIRT2471724	hsa-miR-656	CLIP-seq
MIRT2443377	hsa-miR-924	CLIP-seq
MIRT1545203	hsa-miR-4735-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001738	Process	Morphogenesis of a polarized epithelium	ISS
GO:0001947	Process	Heart looping	ISS
GO:0002092	Process	Positive regulation of receptor internalization	ISS
GO:0005515	Function	Protein binding	IPI	18633336, 22623184, 23532844, 25825872
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18633336
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IDA	18633336
GO:0005912	Component	Adherens junction	IDA	18633336
GO:0005912	Component	Adherens junction	IEA
GO:0005929	Component	Cilium	IC	21959375
GO:0005929	Component	Cilium	IDA	18633336
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	ISS
GO:0007417	Process	Central nervous system development	ISS
GO:0008104	Process	Intracellular protein localization	ISS
GO:0010842	Process	Retina layer formation	ISS
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030862	Process	Positive regulation of polarized epithelial cell differentiation	ISS
GO:0030902	Process	Hindbrain development	ISS
GO:0035844	Process	Cloaca development	ISS
GO:0035845	Process	Photoreceptor cell outer segment organization	ISS
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	18633336
GO:0039008	Process	Pronephric nephron tubule morphogenesis	ISS
GO:0042802	Function	Identical protein binding	IPI	23532844
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0044458	Process	Motile cilium assembly	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0050795	Process	Regulation of behavior	ISS
GO:0060271	Process	Cilium assembly	IMP	21959375
GO:0060271	Process	Cilium assembly	ISS
GO:0065001	Process	Specification of axis polarity	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0071599	Process	Otic vesicle development	ISS
GO:0097730	Component	Non-motile cilium	ISS

Other IDs

• MIM: 608894
• HGNC: 21575
• e!Ensembl: ENSG00000135541

Protein

• UniProt ID: Q8N157
• Protein name: Jouberin (Abelson helper integration site 1 protein homolog) (AHI-1)
• Protein function: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zo
• PDB: 4ESR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	644 → 682	WD domain, G-beta repeat	Repeat
  PF00400	WD40	735 → 772	WD domain, G-beta repeat	Repeat
  PF00400	WD40	834 → 871	WD domain, G-beta repeat	Repeat
  PF00018	SH3_1	1057 → 1103	SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Expressed in kidney (rena
• Sequence:

  MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETT
  SDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEED
  KQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
  DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKE
  VPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPK
  PKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
  ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEW
  EEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLK
  LLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
  DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNK
  HLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDL
  SWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
  MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDL
  EHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGA
  ANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
  MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGS
  FQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSN
  MLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRV
  FFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAP
  QKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE

• Sequence length: 1196

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
AHI1-related disorder	Likely pathogenic; Pathogenic	rs863225135, rs2485022126	RCV003407712 RCV003391448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs121434350	RCV000162132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs761732432, rs2128009190, rs2128081334, rs1410559569, rs1459452503, rs2128046176, rs2128058828, rs761388040, rs2128098409, rs1463748841, rs776569081, rs1217172210, rs2128100946, rs1785745572, rs1369440486, rs2128092639, rs1786504555, rs2128384496, rs2128485171, rs765985758, rs1257185309, rs1165489547, rs2128100863, rs1780545912, rs1784890440, rs2128384779, rs759593846, rs2127973751, rs587783013, rs121434348, rs121434349, rs267606641, rs777527386, rs750264231, rs2484035743, rs1181159671, rs1179403052, rs2484606871, rs794729195, rs1425381964, rs2484904759, rs2484786829, rs797045223, rs893650468, rs1178479782, rs2483057361, rs2484675146, rs1369946782, rs771754539, rs1781562565, rs2484787497, rs2484272408, rs2483589449, rs863225135, rs863225139, rs372659908, rs863225136, rs772989270, rs863225147, rs541041911, rs863225137, rs371637724, rs777668842, rs863225143, rs753085250, rs753874898, rs863225138, rs2484905749, rs1457793607, rs2484604421, rs1788855011, rs2484036120, rs2485019975, rs2483267924, rs2485021896, rs759523949, rs933648254, rs794727174, rs2485334246, rs2484882747, rs1787147374, rs2484269420, rs753655744, rs1736050138, rs761245375, rs41288021, rs2484506355, rs2484607393, rs2483268122, rs1223838167, rs769742563, rs2484905836, rs1157749145, rs2484504701, rs916567564, rs2485337123, rs2485019127, rs2484904067, rs2484884544, rs1419492897, rs2485021945, rs751749918, rs2484508005, rs894830970, rs1784418088, rs758715635, rs2484786284, rs2484977012, rs1790735071, rs2484906480, rs1480087006, rs2483267737, rs2484905892, rs2483264736, rs2484976975, rs2485019671, rs1236041314, rs781680525, rs2485021515, rs1784023146, rs982379114, rs1307676365, rs1333095977, rs1789200069, rs2484034993, rs747322175, rs2483216049, rs1412515128, rs2483057578, rs1785757537, rs1344854036, rs201391050, rs387907003, rs1276908141, rs1554350503, rs1554208431, rs780910490, rs905262279, rs1554214237, rs756276537, rs1562753388, rs772289223, rs777215595, rs751823180, rs187245292, rs1583179845, rs1787150198, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs748438350, rs1336317768, rs780069818, rs1784887448, rs781198326, rs1784617227, rs1270654737, rs1781571282, rs751734985, rs766069291	RCV002550234 RCV001379984 RCV001377083 RCV001387947 RCV001388772 RCV001387657 RCV001382196 RCV001386449 RCV003598051 RCV001868848 RCV001868883 RCV001882058 RCV002012883 RCV001975210 RCV001926080 RCV001993324 RCV001899442 RCV001994624 RCV001971717 RCV002007591 RCV001939373 RCV001936868 RCV001948479 RCV001949439 RCV001934899 RCV001952073 RCV001949585 RCV001986412 RCV003495112 RCV001058641 RCV003495105 RCV001380010 RCV003082797 RCV002574134 RCV002580001 RCV002577169 RCV002621718 RCV002635330 RCV001852379 RCV002630999 RCV002715299 RCV002797143 RCV000820311 RCV002881396 RCV002866503 RCV002893888 RCV002898882 RCV002867607 RCV002913681 RCV002904493 RCV002967842 RCV002976426 RCV002995501 RCV001240194 RCV003495118 RCV001387494 RCV001064024 RCV003495117 RCV001051208 RCV001853231 RCV001064139 RCV000702666 RCV000206729 RCV001853230 RCV003495116 RCV001226946 RCV003765300 RCV003039064 RCV003046624 RCV003495404 RCV003495467 RCV003496114 RCV003496115 RCV003496292 RCV003496847 RCV003496898 RCV003496467 RCV003496547 RCV003496393 RCV003496449 RCV003496936 RCV003497135 RCV003497333 RCV003494835 RCV003494843 RCV003494829 RCV003494661 RCV003494662 RCV003494809 RCV003495743 RCV003495721 RCV003495827 RCV003495998 RCV003496753 RCV003598272 RCV003598302 RCV003598423 RCV003599099 RCV003599172 RCV003599239 RCV003599192 RCV003599267 RCV003599268 RCV003599248 RCV003599378 RCV003599426 RCV003599617 RCV003599604 RCV003599557 RCV003599409 RCV003599673 RCV003599675 RCV003599771 RCV003599666 RCV003599841 RCV003599797 RCV003597529 RCV003597671 RCV003597473 RCV003597695 RCV003597691 RCV003597886 RCV003597942 RCV003597811 RCV003598590 RCV003598628 RCV003598571 RCV003598810 RCV003814898 RCV003822241 RCV003822161 RCV003856467 RCV003851986 RCV003880498 RCV001390240 RCV002513203 RCV000534772 RCV000546325 RCV000557938 RCV001221324 RCV000636937 RCV000636938 RCV000688299 RCV003495180 RCV003768174 RCV001237047 RCV003598005 RCV001856246 RCV000819382 RCV002549687 RCV001040763 RCV001064140 RCV001056556 RCV001039034 RCV001067720 RCV001069242 RCV001055461 RCV001051209 RCV001045000 RCV001054276 RCV002554701 RCV001862852 RCV001211945 RCV001204778 RCV001226107 RCV002541620 RCV002537719	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Likely pathogenic; Pathogenic	rs794729195, rs751823180, rs1583179845, rs1583276758	RCV000987790 RCV000987786 RCV000987785 RCV000987789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 3	Pathogenic; Likely pathogenic	rs863225146, rs2128012406, rs761732432, rs2128058828, rs761388040, rs2128098409, rs1463748841, rs774628957, rs2128081591, rs2128071123, rs2128081478, rs776569081, rs1785745572, rs1369440486, rs1786504555, rs1257185309, rs1784890440, rs759593846, rs587783013, rs587783014, rs121434348, rs121434349, rs121434350, rs267606641, rs387906270, rs1778992944, rs777527386, rs1272037551, rs797045224, rs797045223, rs863225135, rs863225131, rs863225139, rs372659908, rs863225140, rs755407014, rs863225134, rs863225136, rs776093293, rs863225145, rs772989270, rs863225147, rs541041911, rs764412921, rs863225132, rs863225148, rs863225137, rs863225141, rs371637724, rs777668842, rs863225143, rs753085250, rs863225133, rs753874898, rs863225142, rs863225138, rs2483588824, rs886039465, rs2484574515, rs774144071, rs933648254, rs794727174, rs1787147374, rs2484506355, rs2484607393, rs916567564, rs753655744, rs2484976975, rs982379114, rs1333095977, rs2484034993, rs1412515128, rs1344854036, rs201391050, rs387907003, rs780910490, rs756276537, rs777215595, rs751823180, rs187245292, rs397514726, rs1355690902, rs1445681647, rs1786487832, rs1163874095, rs1336317768, rs1788834778, rs1784918128, rs1270654737, rs1789162289, rs1788846426, rs751734985	RCV001330966 RCV001726494 RCV002493913 RCV005038183 RCV005040259 RCV001591764 RCV001783334 RCV001783339 RCV001783341 RCV001785860 RCV001785863 RCV004796660 RCV003987946 RCV002272530 RCV002227563 RCV005031997 RCV005040438 RCV002497888 RCV000144464 RCV000144465 RCV000002087 RCV000002088 RCV000002089 RCV000002091 RCV000002093 RCV002466931 RCV005034691 RCV005032290 RCV000195247 RCV000194226 RCV000201566 RCV000201542 RCV000201540 RCV000201786 RCV000201604 RCV000201613 RCV000201778 RCV000201556 RCV000201656 RCV000201625 RCV000201721 RCV000201635 RCV000201632 RCV000201711 RCV000201738 RCV000201727 RCV000201585 RCV000201568 RCV000201702 RCV000201739 RCV000201715 RCV000201621 RCV000201545 RCV000201728 RCV000201689 RCV000201760 RCV000201668 RCV003148527 RCV005044513 RCV003322733 RCV003335818 RCV005047650 RCV005402043 RCV005036862 RCV004763713 RCV005036887 RCV005047719 RCV005254855 RCV005036950 RCV005036959 RCV005040478 RCV005038502 RCV005038547 RCV005040610 RCV000023739 RCV000023740 RCV002483666 RCV005034295 RCV001785719 RCV000791182 RCV005036211 RCV000054427 RCV001254914 RCV002479345 RCV002283518 RCV002497471 RCV005036340 RCV005036325 RCV001175179 RCV001175180 RCV002491618 RCV001250414 RCV001252132 RCV001264829	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Pathogenic; Likely pathogenic	rs1459452503, rs1181159671, rs2128056526, rs777527386, rs1272037551, rs893650468, rs863225131, rs371637724, rs777668842, rs863225143, rs753874898, rs863225142, rs863225138, rs1221909332, rs1333095977, rs756276537, rs777215595, rs187245292, rs1270654737	RCV003235571 RCV002222984 RCV002240117 RCV004700948 RCV002510279 RCV003492784 RCV003114363 RCV004767145 RCV003317148 RCV005237712 RCV002469063 RCV003330575 RCV002469064 RCV003155656 RCV005407239 RCV002298739 RCV004702399 RCV004768701 RCV003492229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with ocular defect	Pathogenic	rs201391050, rs1787347907, rs1788833484	RCV001172379 RCV001172381 RCV001172383	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs587783013, rs1554347012	RCV001262092 RCV000515724	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Pathogenic	rs777668842, rs766069291	RCV001328119 RCV001328118	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs777668842, rs753874898, rs201391050, rs780910490, rs777215595, rs751823180, rs1355690902, rs1336317768, rs1784887448, rs781198326, rs1270654737	RCV001074545 RCV004816343 RCV001074225 RCV004817809 RCV001073854 RCV004818031 RCV001075354 RCV001074546 RCV001074157 RCV001075547 RCV004813856	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs587783013, rs797045224, rs372659908, rs773278338, rs1554338016, rs777215595	RCV000678521 RCV000504798 RCV001002863 RCV000504625 RCV000504989 RCV001002862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs761732432, rs267606641, rs777668842	RCV001376376 RCV001376341 RCV001376375	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Typical Joubert syndrome MRI findings	Likely pathogenic; Pathogenic	rs121434350	RCV000162132	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; -; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SELECTIVE IGA DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 2 diabetes mellitus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	24284316		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	28334850	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20683928		★☆☆☆☆ Found in Text Mining only
Angioimmunoblastic Lymphadenopathy	Angioimmunoblastic T-cell lymphoma	BEFREE	9018122		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29967406		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29967406		★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	28391287	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	11145021	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30529763	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18782849, 24736721	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18782849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18782849, 20371615, 20683928, 20956301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18782849		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18782849, 20371615, 20683928	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12186888, 9204986		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	20452750		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23053642	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	32552892	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	23053642	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26259033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32552892	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	CTD_human_DG	20371615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	22207290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	22207290		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	21068128, 28442542, 34205586	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	23532844, 25616960, 28118669, 31391239		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23532844		★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24782214		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	19109428		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	19109428		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	16773125		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	16155189		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	24691070, 27379735, 29449373		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26759440	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29449373		★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17668382	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17668382		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18227995, 20045148		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	16541367		★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	15322546, 16155189, 16240161, 16453322, 16773125, 17160906, 17960139, 18782849, 18785627, 19533793, 19625297, 20081859, 20371615, 21623382, 22248740, 23028714, 23532844, 23658157, 24746959, 25616960, 28118669, 28391287, 28431631, 29334628, 29449373, 30055837, 30695685, 30949029, 31202121, 31391239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	16155189, 16453322, 26092869		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	22693042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosarcoma	Fibrosarcoma	BEFREE	9018122		★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	12382090, 7560853		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	10795514, 18360906, 8636707		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	9018122		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33735310	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23658157		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematological Disease	Hematological Disease	BEFREE	20045148		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	33872335	Stimulate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	12382090		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	GWASCAT_DG	29196614		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	12382090		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	16155189, 29334628, 34627237	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	CTD_human_DG	27723758		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23532844		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16773125		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	20683928	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	18054307		★☆☆☆☆ Found in Text Mining only
Johanson-Blizzard syndrome	Johanson-Blizzard Syndrome	BEFREE	18054307		★☆☆☆☆ Found in Text Mining only
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	22693042		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1	Joubert Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 17	Joubert Syndrome	GENOMICS_ENGLAND_DG	16453322		★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 3	Joubert Syndrome	GENOMICS_ENGLAND_DG	1341417, 15467982, 16155189, 16453322		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 3	Joubert Syndrome	UNIPROT_DG	15322546, 15467982, 16155189, 16453322, 21623382, 23532844		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 3	Joubert Syndrome	CLINVAR_DG	15467982, 21623382, 25445212, 26092869, 28431631, 28442542		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 3	Joubert Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	ORPHANET_DG	20615230		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	16155189, 18054307, 20081859		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	16155189		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16155189, 29146704	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	16155189	Associate	★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	20683928	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
leukemia	Leukemia	BEFREE	14751929, 16838023, 18936234, 19211505, 22248740, 24284316		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19211505, 28366933	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	9075484		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23466962		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	34665712	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 28714469		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23053642	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12502821, 16838023, 19211505, 22248740		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19211505	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	19211505, 23171462		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16511562		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	22207290		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22207290		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	26729329	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32552892	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32552892	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	24691070, 27379735, 29449373		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31062249		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16773125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20045148		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	20683928		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	21833088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	21833088, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	27861577, 29409597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29409597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	14751929, 18936234, 22183070, 22248740, 22623184		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	18936234		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11134268, 12186888, 23171462, 24788832, 8189528, 9018122		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	16240161, 17409309, 17960139, 20081859, 21866095		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis 2	Nephronophthisis	Pubtator	21866095	Associate	★☆☆☆☆ Found in Text Mining only
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	21866095	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	GWASCAT_DG	31263063		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	31062249		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	18785627		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	GWASCAT_DG	29196614		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	20805890		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	26759440	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20045148, 22285701		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	BEFREE	28391287		★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	BEFREE	28391287		★☆☆☆☆ 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
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37870410	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	1341417		★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	15467982, 15786477	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	15786477		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	12186888, 9204986		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	20805890		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	18054307, 20081859		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	28442542	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	16155189, 17160906, 19461662		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25356976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25356976, 28442542, 34627237	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11145021, 15115313		★☆☆☆☆ Found in Text Mining only
RHYNS syndrome	Rhyns syndrome	Pubtator	28442542	Associate	★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	19109428		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	BEFREE	16773125, 17473831, 18782849, 18785627, 20071346, 20371615, 20452750, 20805890, 20956301, 25622261, 27585752, 29449373, 29967406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16773125, 17473831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18782849, 20371615, 24736721	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	20371615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	BEFREE	27723758		★☆☆☆☆ Found in Text Mining only
Selective immunoglobulin A deficiency	Selective Immunoglobulin A Deficiency	GWASCAT_DG	27723758		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	16838023, 19211505		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	19211505	Associate	★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	32552892	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	28391287		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	28391287	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	9204986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	29496693		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16541367		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29496693	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only