Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10743
Gene name	Retinoic acid induced 1
Gene symbol	RAI1
Synonyms (NCBI Gene)	SMCRSMS
Chromosome	17
Chromosome location	17p11.2
Summary	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine

Show/Hide all (44)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34521483	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs104894633	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894634	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs142981643	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs149716029	GAG>-	Benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs368106957	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376044849	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs398124419	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs527236033	G>A	Pathogenic	Stop gained, coding sequence variant
rs727504118	A>T	Pathogenic	Coding sequence variant, stop gained
rs727504119	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs750335388	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753540389	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs755572135	G>A,C	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs878853142	GGCAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039715	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041916	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044681	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796156	AGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796209	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691617	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691817	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1135401792	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565108	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555565170	->AGCACGCCACAGTCCACGCATGCGGAGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555565243	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565426	CCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555565492	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555565533	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555565674	GCC>CT	Pathogenic	Frameshift variant, coding sequence variant
rs1555566042	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555566124	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555566164	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567917533	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598086801	GTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598088228	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598088235	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598089943	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1598090354	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598090745	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598091391	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598092034	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598092236	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598093659	A>-	Pathogenic	Frameshift variant, coding sequence variant

294

Show/Hide all (294)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052256	hsa-let-7b-5p	CLASH	23622248
MIRT041078	hsa-miR-504-5p	CLASH	23622248
MIRT039088	hsa-miR-769-3p	CLASH	23622248
MIRT037657	hsa-miR-744-5p	CLASH	23622248
MIRT052878	hsa-miR-3687	CLASH	23622248
MIRT706799	hsa-miR-4532	HITS-CLIP	21572407
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	21572407
MIRT706798	hsa-miR-150-5p	HITS-CLIP	21572407
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	21572407
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	21572407
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	21572407
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	21572407
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT706793	hsa-miR-4303	HITS-CLIP	21572407
MIRT469619	hsa-miR-1197	PAR-CLIP	20371350
MIRT469618	hsa-miR-3937	PAR-CLIP	20371350
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT469616	hsa-miR-4462	PAR-CLIP	20371350
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT469613	hsa-miR-184	PAR-CLIP	20371350
MIRT469612	hsa-miR-4515	PAR-CLIP	20371350
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	21572407
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT516900	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516899	hsa-miR-3924	PAR-CLIP	21572407
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	23446348
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516900	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516899	hsa-miR-3924	PAR-CLIP	23446348
MIRT144848	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT469619	hsa-miR-1197	PAR-CLIP	23592263
MIRT469618	hsa-miR-3937	PAR-CLIP	23592263
MIRT469617	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT469616	hsa-miR-4462	PAR-CLIP	23592263
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT469613	hsa-miR-184	PAR-CLIP	23592263
MIRT469612	hsa-miR-4515	PAR-CLIP	23592263
MIRT469611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT469610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT469609	hsa-miR-4736	PAR-CLIP	23592263
MIRT469608	hsa-miR-3199	PAR-CLIP	23592263
MIRT469607	hsa-miR-8052	PAR-CLIP	23592263
MIRT469606	hsa-miR-7150	PAR-CLIP	23592263
MIRT144808	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT144808	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	27418678
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	27418678
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	27418678
MIRT706798	hsa-miR-150-5p	HITS-CLIP	27418678
MIRT706793	hsa-miR-4303	HITS-CLIP	27418678
MIRT706799	hsa-miR-4532	HITS-CLIP	27418678
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	27418678
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	27418678
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	27418678
MIRT706799	hsa-miR-4532	HITS-CLIP	21572407
MIRT706800	hsa-miR-6784-5p	HITS-CLIP	21572407
MIRT706798	hsa-miR-150-5p	HITS-CLIP	21572407
MIRT706797	hsa-miR-1199-5p	HITS-CLIP	21572407
MIRT706796	hsa-miR-6751-3p	HITS-CLIP	21572407
MIRT706795	hsa-miR-128-1-5p	HITS-CLIP	21572407
MIRT706794	hsa-miR-128-2-5p	HITS-CLIP	21572407
MIRT706792	hsa-miR-6749-3p	HITS-CLIP	21572407
MIRT706793	hsa-miR-4303	HITS-CLIP	21572407
MIRT469619	hsa-miR-1197	PAR-CLIP	20371350
MIRT469618	hsa-miR-3937	PAR-CLIP	20371350
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	20371350
MIRT469616	hsa-miR-4462	PAR-CLIP	20371350
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT469613	hsa-miR-184	PAR-CLIP	20371350
MIRT469612	hsa-miR-4515	PAR-CLIP	20371350
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	21572407
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT516900	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516899	hsa-miR-3924	PAR-CLIP	21572407
MIRT144843	hsa-miR-4704-5p	PAR-CLIP	23446348
MIRT516901	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT144849	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516900	hsa-miR-656-3p	PAR-CLIP	23446348
MIRT144846	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT144806	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516899	hsa-miR-3924	PAR-CLIP	23446348
MIRT144848	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT469619	hsa-miR-1197	PAR-CLIP	23592263
MIRT469618	hsa-miR-3937	PAR-CLIP	23592263
MIRT469617	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT469615	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT469616	hsa-miR-4462	PAR-CLIP	23592263
MIRT469614	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT469613	hsa-miR-184	PAR-CLIP	23592263
MIRT469612	hsa-miR-4515	PAR-CLIP	23592263
MIRT469611	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT469610	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT469609	hsa-miR-4736	PAR-CLIP	23592263
MIRT469608	hsa-miR-3199	PAR-CLIP	23592263
MIRT469607	hsa-miR-8052	PAR-CLIP	23592263
MIRT469606	hsa-miR-7150	PAR-CLIP	23592263
MIRT1288460	hsa-miR-1	CLIP-seq
MIRT1288461	hsa-miR-1224-5p	CLIP-seq
MIRT1288462	hsa-miR-1238	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288465	hsa-miR-1587	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288468	hsa-miR-206	CLIP-seq
MIRT1288469	hsa-miR-3065-3p	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288472	hsa-miR-3143	CLIP-seq
MIRT1288473	hsa-miR-3160-3p	CLIP-seq
MIRT1288474	hsa-miR-3169	CLIP-seq
MIRT1288475	hsa-miR-329	CLIP-seq
MIRT1288476	hsa-miR-331-3p	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288478	hsa-miR-3611	CLIP-seq
MIRT1288479	hsa-miR-362-3p	CLIP-seq
MIRT1288480	hsa-miR-3673	CLIP-seq
MIRT1288481	hsa-miR-3690	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288483	hsa-miR-3941	CLIP-seq
MIRT1288484	hsa-miR-3942-5p	CLIP-seq
MIRT1288485	hsa-miR-3978	CLIP-seq
MIRT1288486	hsa-miR-4276	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT1288488	hsa-miR-4302	CLIP-seq
MIRT1288489	hsa-miR-4308	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT1288491	hsa-miR-4467	CLIP-seq
MIRT1288492	hsa-miR-4486	CLIP-seq
MIRT1288493	hsa-miR-4488	CLIP-seq
MIRT1288494	hsa-miR-4492	CLIP-seq
MIRT1288495	hsa-miR-4493	CLIP-seq
MIRT1288496	hsa-miR-4498	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288498	hsa-miR-450a	CLIP-seq
MIRT1288499	hsa-miR-4511	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288503	hsa-miR-4656	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288506	hsa-miR-4675	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288508	hsa-miR-4691-5p	CLIP-seq
MIRT1288509	hsa-miR-4697-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT1288511	hsa-miR-4703-5p	CLIP-seq
MIRT1288512	hsa-miR-4726-3p	CLIP-seq
MIRT1288513	hsa-miR-4731-5p	CLIP-seq
MIRT1288514	hsa-miR-4741	CLIP-seq
MIRT1288515	hsa-miR-4747-5p	CLIP-seq
MIRT1288516	hsa-miR-4751	CLIP-seq
MIRT1288517	hsa-miR-543	CLIP-seq
MIRT1288518	hsa-miR-548b-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288520	hsa-miR-603	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT1288523	hsa-miR-613	CLIP-seq
MIRT1288524	hsa-miR-629	CLIP-seq
MIRT1288525	hsa-miR-637	CLIP-seq
MIRT1288526	hsa-miR-662	CLIP-seq
MIRT1288527	hsa-miR-762	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288529	hsa-miR-875-3p	CLIP-seq
MIRT1552900	hsa-miR-452	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085499	hsa-miR-1224-3p	CLIP-seq
MIRT1288461	hsa-miR-1224-5p	CLIP-seq
MIRT2085500	hsa-miR-1260	CLIP-seq
MIRT2085501	hsa-miR-1260b	CLIP-seq
MIRT2085502	hsa-miR-1280	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288465	hsa-miR-1587	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288473	hsa-miR-3160-3p	CLIP-seq
MIRT1288474	hsa-miR-3169	CLIP-seq
MIRT2085504	hsa-miR-3176	CLIP-seq
MIRT2085505	hsa-miR-323-5p	CLIP-seq
MIRT2085506	hsa-miR-339-3p	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT2085507	hsa-miR-3922-3p	CLIP-seq
MIRT2085508	hsa-miR-3929	CLIP-seq
MIRT1288485	hsa-miR-3978	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT2085509	hsa-miR-4419b	CLIP-seq
MIRT2085510	hsa-miR-4478	CLIP-seq
MIRT1288493	hsa-miR-4488	CLIP-seq
MIRT1288494	hsa-miR-4492	CLIP-seq
MIRT1288496	hsa-miR-4498	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288503	hsa-miR-4656	CLIP-seq
MIRT2085511	hsa-miR-4663	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288506	hsa-miR-4675	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288509	hsa-miR-4697-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT2085512	hsa-miR-4713-5p	CLIP-seq
MIRT1288513	hsa-miR-4731-5p	CLIP-seq
MIRT1288514	hsa-miR-4741	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT1288516	hsa-miR-4751	CLIP-seq
MIRT2085514	hsa-miR-485-5p	CLIP-seq
MIRT2085515	hsa-miR-532-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT2085516	hsa-miR-635	CLIP-seq
MIRT1288525	hsa-miR-637	CLIP-seq
MIRT1288527	hsa-miR-762	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288529	hsa-miR-875-3p	CLIP-seq
MIRT2085517	hsa-miR-876-3p	CLIP-seq
MIRT2310823	hsa-miR-1267	CLIP-seq
MIRT1288464	hsa-miR-150	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288467	hsa-miR-1972	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT1288475	hsa-miR-329	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288479	hsa-miR-362-3p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288483	hsa-miR-3941	CLIP-seq
MIRT2310824	hsa-miR-410	CLIP-seq
MIRT2310825	hsa-miR-4260	CLIP-seq
MIRT2310826	hsa-miR-4283	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT2310827	hsa-miR-4489	CLIP-seq
MIRT1288500	hsa-miR-4520a-3p	CLIP-seq
MIRT1288501	hsa-miR-4650-5p	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT2310828	hsa-miR-4747-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288520	hsa-miR-603	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT2310829	hsa-miR-760	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288463	hsa-miR-1291	CLIP-seq
MIRT1288471	hsa-miR-3141	CLIP-seq
MIRT1288477	hsa-miR-342-5p	CLIP-seq
MIRT1288482	hsa-miR-378g	CLIP-seq
MIRT1288487	hsa-miR-4292	CLIP-seq
MIRT1288490	hsa-miR-4437	CLIP-seq
MIRT1288497	hsa-miR-4505	CLIP-seq
MIRT1288502	hsa-miR-4651	CLIP-seq
MIRT1288504	hsa-miR-4664-5p	CLIP-seq
MIRT1288505	hsa-miR-4674	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT1288510	hsa-miR-4700-3p	CLIP-seq
MIRT1288519	hsa-miR-582-5p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT1288522	hsa-miR-608	CLIP-seq
MIRT1288528	hsa-miR-765	CLIP-seq
MIRT1288466	hsa-miR-1915	CLIP-seq
MIRT1288507	hsa-miR-4685-5p	CLIP-seq
MIRT2085503	hsa-miR-1538	CLIP-seq
MIRT1288470	hsa-miR-3138	CLIP-seq
MIRT2689298	hsa-miR-3943	CLIP-seq
MIRT2689299	hsa-miR-4323	CLIP-seq
MIRT2689300	hsa-miR-4520a-5p	CLIP-seq
MIRT2689301	hsa-miR-4520b-5p	CLIP-seq
MIRT2085513	hsa-miR-4745-3p	CLIP-seq
MIRT1288521	hsa-miR-604	CLIP-seq
MIRT2689302	hsa-miR-647	CLIP-seq
MIRT2689303	hsa-miR-941	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0032922	Process	Circadian regulation of gene expression	IBA
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	IMP	22578325
GO:0040015	Process	Negative regulation of multicellular organism growth	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	22578325
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA

MIM	HGNC	e!Ensembl
607642	9834	ENSG00000108557

Q7Z5J4

Protein name

Retinoic acid-induced protein 1

Protein function

Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription thr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13771	zf-HC5HC2H	1825 → 1903		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. {ECO:0000269|PubMed:12837267}.

Sequence

MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDYYNPQPYPSYE
GGAGTPSGTAAAVAADKYHRGSKALPTQQGLQGRPAFPGYGVQDSSPYPGRYAGEESLQA
WGAPQPPPPQPQPLPAGVAKYDENLMKKTAVPPSRQYAEQGAQVPFRTHSLHVQQPPPPQ
QPLAYPKLQRQKLQNDIASPLPFPQGTHFPQHSQSFPTSSTYSSSVQGGGQGAHSYKSCT
APTAQPHDRPLTASSSLAPGQRVQNLHAYQSGRLSYDQQQQQQQQQQQQQQALQSRHHAQ
ETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSVGRSPSYSSTP
SPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSPTDATSSVDTQAGNCKPLQKD
KLPENLLSDLSLQSLTALTSQVENISNTVQQLLLSKAAVPQKKGVKNLVSRTPEQHKSQH
CSPEGSGYSAEPAGTPLSEPPSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPA
RVNSNSKAKPESVSTCSVTSPDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLS
ALAQEDLASEILGLQEAIGEKADKAWAEAPSLVKDSSKPPFSLENHSACLDSVAKSAWPR
PGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPKKTTGPLSFGTKPTLGVPAPD
PTTAAFDCFPDTTAASSADSANPFAWPEENLGDACPRWGLHPGELTKGLEQGGKASDGIS
KGDTHEASACLGFQEEDPPGEKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLED
SRHCCSTADFGDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICT
KEEVEEVLDSKAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMKPGEEGPDGER
APGDSTTSDASLAQKPNKPAVPEAPIAKKEPVPRGKSLRSRRVHRGLPEAEDSPCRAPVL
PKDLLLPESCTGPPQGQMEGAGAPGRGASEGLPRMCTRSLTALSEPRTPGPPGLTTTPAP
PDKLGGKQRAAFKSGKRVGKPSPKAASSPSNPAALPVASDSSPMGSKTKETDSPSTPGKD
QRSMILRSRTKTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVSSSPQKEGRVS
QRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSNASGNGGDGKE
ERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDACLKLASRAAFQGAMKTKVLP
PRKGRGLKLEAIVQKITSPSLKKFACKAPGASPGNPLSPSLSDKDRGLKGAGGSPVGVEE
GLVNVGTGQKLPTSGADPLCRNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGT
ALAPKKRSRKGRAGAHGLSKGPLEKRPYLGPALLLTPRDRASGTQGASEDNSGGGGKKPK
MEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRLTRGRAKNTTSSPCKGRAKRR
RQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVRVEKRDAFTTICTVVNSPGDA
PKPHRKPSSSASSSSSSSSFSLDAAGASLATLPGGSILQPRPSLPLSSTMHLGPVVSKAL
STSCLVCCLCQNPANFKDLGDLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTL
KGPECAAAATAGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPAD
KGRKHECSKEAPAEPGGEAQEHWVHEACAVWTGGVYLVAGKLFGLQEAMKVAVDMMCSSC
QEAGATIGCCHKGCLHTYHYPCASDAGCIFIEENFSLKCPKHKRLP

Sequence length

1906

Interactions

View interactions

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)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental disorder	Pathogenic	rs2032316656	RCV003127462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs878853142, rs2032102818, rs2032172594, rs2032302357, rs2032257286	RCV000224248 RCV001257619 RCV001257618 RCV001257621 RCV001261376	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2543620151	RCV003389180	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAI1-related disorder	Likely pathogenic; Pathogenic	rs772898321, rs2508585255, rs2508581992, rs2032105178, rs2508569160, rs750728463	RCV003916714 RCV003408672 RCV003391360 RCV003410591 RCV003954877 RCV003393922 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic intellectual disability	Likely pathogenic	rs2543620405	RCV001256992	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-Magenis syndrome	Pathogenic; Likely pathogenic	rs2032234525, rs2143003068, rs771803841, rs2143002950, rs527236033, rs2143003540, rs2143001434, rs2143006568, rs2508587478, rs2543625115, rs2508567901, rs2508577969, rs727504119, rs867108845, rs2508575839 View all (28 more)	RCV001352691 RCV001420159 RCV002464467 RCV001801271 RCV000132731 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndromic intellectual disability	Likely pathogenic	rs2508569771	RCV003994771	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs757309140	RCV005925364	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (35)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
17p11.2 microduplication syndrome	Benign; Likely benign	ClinVar ClinVar, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 9	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 9	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMP22-RAI1 contiguous gene duplication syndrome	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POTOCKI-LUPSKI SYNDROME	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR AGITATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (161)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	28323186, 31621039, 31756616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	29429125, 8302723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	29948768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31106613		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	30819163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	27888080, 27942937, 28146020, 28414745, 28538526, 28723878, 29615021, 30200098, 30986576, 31205184, 31574066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29316959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	21152090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28132125, 30252721, 30878321, 31525469, 31675602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	21152090, 28132125, 30252721, 30878321, 31525469, 31675602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety Disorders	Anxiety disorder	Pubtator	21152090	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21235823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	29572169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	31808565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21235823		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	28866740, 30010046, 30151783, 31325052, 31525469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	28866740, 30010046, 30151783, 31325052, 31525469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27760236, 28132125, 29087231, 30405459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27760236, 27878739, 28132125, 28256099, 28639377, 28866740, 29520885, 29884819, 29951183, 30010046, 30151783, 31325052, 31342442, 31525469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	27987063, 30405459, 30728928, 31351456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	20007505, 21863054, 23240093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of brain, unspecified	Brain Neoplasms	BEFREE	28629376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	17471289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	17471289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar II disorder	Bipolar Disorder	PSYGENET_DG	17471289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30629227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30733278, 31503278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30733278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36544774	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38097948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30287033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28143840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	BEFREE	29097132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18205922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31269946		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30300091		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	30300091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30094019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31594889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26438117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30521889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27433286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	30352209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28890009, 29733392, 30029956, 31835173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	29462064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30192711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30252721, 31525469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29258499, 29304148, 29859274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29258499, 29304148, 29859274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	23897707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18550699, 30588604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Partial, Motor	Epilepsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30588604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	28948077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	8242562, 9177769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	31342442		★★★★★ ★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	28437346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29183682, 30646599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31157754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucagonoma	Glucagonoma	BEFREE	8132773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31621039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28421299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29361934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	29429125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38097948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18550699, 30843525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	8600777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31162128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18550699, 21318891, 23897707, 27878739, 28720891, 29097652, 31580924		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	28720891, 32838743	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal Cancer	Intestinal Cancer	BEFREE	30855076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28162788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30733278, 31503278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30287033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18575731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28838885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30300091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	14508504, 21318891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10036180		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28260130		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30252721, 31525469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28639377, 28701292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18550699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	LHGDN	18550699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	19206178, 19277733		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	CLINGEN_DG	14508504, 18367445, 18550699, 19206178, 19641749, 20950271, 21318872, 21647366, 22612257, 23468611, 23696453, 25888122, 26174906, 26350204, 26761001, 29348635 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	UNIPROT_DG	14508504, 18550699, 19206178, 22612257, 23696453, 23897707		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	18550699, 19206178, 19277733, 21318891, 21647366, 23468611, 23696453, 23897707, 25340632, 26174906, 26761001, 29097652, 29348635, 30967493, 31580924, 31659216 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	GENOMICS_ENGLAND_DG	23897707, 5823961		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	28516425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21152090, 28554910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	21152090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	BEFREE	28128226		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	23468611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	8600777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28121913, 28292204, 29889256, 29952421, 30521889, 31503278, 31756616, 3456456, 8132773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	31493607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14523941, 21159604, 28429453, 30733278, 8169976, 9192834, 9681834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	8242562, 9177769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	27760236		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	28323186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26438117, 31097084, 31226692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	21334180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23468611, 31659216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28948077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patchy hypo- and hyperpigmentation	Patchy hypo- and hyperpigmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28639377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28121913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29596995, 30056129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18575731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11877759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	21334180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30819163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	9681834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19192274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28584189, 9681834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	10227403, 11718568, 15234339, 18156438, 20007505, 21863054, 23240093, 30152198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21334180, 28393745, 28720891		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	27541847, 27743204, 27748701, 27791706, 27888080, 28125524, 28146020, 28288920, 28414170, 28437346, 28489761, 28529002, 28538526, 28688984, 28727996 View all (43 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32838743	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26917434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin-picking	Skin-picking	BEFREE	27885889		★★★★★ ★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	31336002, 31461372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Magenis syndrome	Smith-Magenis Syndrome	BEFREE	16152635, 29096777, 29452589		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Smith-Magenis syndrome	Smith-Magenis Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylolisthesis	Spondylolisthesis	BEFREE	28146020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30843525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stiff-Person Syndrome	Stiff-Person Syndrome	BEFREE	31336002, 31461372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	30877350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31503278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28586956		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Snyder type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	19143733		★★★★★ ★☆☆☆☆ Found in Text Mining only

RAI1 (retinoic acid induced 1)