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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1121
Gene name	CHM Rab escort protein
Gene symbol	CHM
Synonyms (NCBI Gene)	DXS540GGTAHSD-32REP-1TCD
Chromosome	X
Chromosome location	Xq21.2
Summary	This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab

Show/Hide all (53)

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630263	GG>TC	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs132630264	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs132630265	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs132630266	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs132630267	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs369829791	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373242750	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs386833676	->A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs397514603	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs527236048	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587776746	ACAA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs776256380	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs786204761	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs786205604	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886041174	C>A	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs886041175	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886041176	GACT>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant
rs886041177	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041178	G>A,T	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs886041179	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886041180	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886041181	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886043716	GTAA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs912390081	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1057516265	T>C	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, initiator codon variant, missense variant, genic upstream transcript variant
rs1057517714	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057517715	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057517716	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1057517717	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057520629	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1057520765	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1057521475	C>T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1555955061	T>C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1555958073	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1555968874	AGC>-	Likely-pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs1555972050	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs1556191599	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556207100	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556217900	A>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1556257626	C>T	Likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs1556277815	G>C,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1556307648	->CA	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556307713	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1603236385	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603244690	G>C	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603262410	->TATG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603263147	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1603264410	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603264449	GC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603288794	GTCCCT>TTCCC	Pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1603288815	AT>-	Pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1603288832	C>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, stop gained, genic upstream transcript variant
rs1603288875	C>T	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, initiator codon variant, missense variant

545

Show/Hide all (545)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024694	hsa-miR-215-5p	Microarray	19074876
MIRT026666	hsa-miR-192-5p	Microarray	19074876
MIRT029824	hsa-miR-26b-5p	Microarray	19088304
MIRT890226	hsa-miR-1200	CLIP-seq
MIRT890227	hsa-miR-122	CLIP-seq
MIRT890228	hsa-miR-1243	CLIP-seq
MIRT890229	hsa-miR-1289	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT890231	hsa-miR-181a	CLIP-seq
MIRT890232	hsa-miR-181b	CLIP-seq
MIRT890233	hsa-miR-181c	CLIP-seq
MIRT890234	hsa-miR-181d	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890236	hsa-miR-24	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT890239	hsa-miR-3128	CLIP-seq
MIRT890240	hsa-miR-3135b	CLIP-seq
MIRT890241	hsa-miR-3136-5p	CLIP-seq
MIRT890242	hsa-miR-3153	CLIP-seq
MIRT890243	hsa-miR-3182	CLIP-seq
MIRT890244	hsa-miR-3187-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT890246	hsa-miR-3194-3p	CLIP-seq
MIRT890247	hsa-miR-3198	CLIP-seq
MIRT890248	hsa-miR-3647-3p	CLIP-seq
MIRT890249	hsa-miR-3652	CLIP-seq
MIRT890250	hsa-miR-3654	CLIP-seq
MIRT890251	hsa-miR-3660	CLIP-seq
MIRT890252	hsa-miR-3663-5p	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT890254	hsa-miR-3688-5p	CLIP-seq
MIRT890255	hsa-miR-3692	CLIP-seq
MIRT890256	hsa-miR-374a	CLIP-seq
MIRT890257	hsa-miR-374b	CLIP-seq
MIRT890258	hsa-miR-377	CLIP-seq
MIRT890259	hsa-miR-3908	CLIP-seq
MIRT890260	hsa-miR-3942-5p	CLIP-seq
MIRT890261	hsa-miR-3975	CLIP-seq
MIRT890262	hsa-miR-411	CLIP-seq
MIRT890263	hsa-miR-4251	CLIP-seq
MIRT890264	hsa-miR-4259	CLIP-seq
MIRT890265	hsa-miR-4262	CLIP-seq
MIRT890266	hsa-miR-4272	CLIP-seq
MIRT890267	hsa-miR-4282	CLIP-seq
MIRT890268	hsa-miR-4293	CLIP-seq
MIRT890269	hsa-miR-4294	CLIP-seq
MIRT890270	hsa-miR-4309	CLIP-seq
MIRT890271	hsa-miR-4324	CLIP-seq
MIRT890272	hsa-miR-4430	CLIP-seq
MIRT890273	hsa-miR-4435	CLIP-seq
MIRT890274	hsa-miR-4436b-5p	CLIP-seq
MIRT890275	hsa-miR-4439	CLIP-seq
MIRT890276	hsa-miR-4470	CLIP-seq
MIRT890277	hsa-miR-4513	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT890280	hsa-miR-4526	CLIP-seq
MIRT890281	hsa-miR-4659a-3p	CLIP-seq
MIRT890282	hsa-miR-4659b-3p	CLIP-seq
MIRT890283	hsa-miR-4668-5p	CLIP-seq
MIRT890284	hsa-miR-4670-3p	CLIP-seq
MIRT890285	hsa-miR-4686	CLIP-seq
MIRT890286	hsa-miR-4701-5p	CLIP-seq
MIRT890287	hsa-miR-4703-5p	CLIP-seq
MIRT890288	hsa-miR-4716-5p	CLIP-seq
MIRT890289	hsa-miR-4720-5p	CLIP-seq
MIRT890290	hsa-miR-4724-5p	CLIP-seq
MIRT890291	hsa-miR-4731-3p	CLIP-seq
MIRT890292	hsa-miR-4755-3p	CLIP-seq
MIRT890293	hsa-miR-4766-3p	CLIP-seq
MIRT890294	hsa-miR-4775	CLIP-seq
MIRT890295	hsa-miR-4781-3p	CLIP-seq
MIRT890296	hsa-miR-4786-5p	CLIP-seq
MIRT890297	hsa-miR-4799-3p	CLIP-seq
MIRT890298	hsa-miR-4799-5p	CLIP-seq
MIRT890299	hsa-miR-4801	CLIP-seq
MIRT890300	hsa-miR-485-3p	CLIP-seq
MIRT890301	hsa-miR-544b	CLIP-seq
MIRT890302	hsa-miR-548s	CLIP-seq
MIRT890303	hsa-miR-580	CLIP-seq
MIRT890304	hsa-miR-588	CLIP-seq
MIRT890305	hsa-miR-590-3p	CLIP-seq
MIRT890306	hsa-miR-628-3p	CLIP-seq
MIRT890307	hsa-miR-885-5p	CLIP-seq
MIRT890308	hsa-miR-935	CLIP-seq
MIRT890309	hsa-miR-943	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq
MIRT890311	hsa-miR-3659	CLIP-seq
MIRT890312	hsa-miR-4658	CLIP-seq
MIRT890313	hsa-miR-574-5p	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT890241	hsa-miR-3136-5p	CLIP-seq
MIRT890251	hsa-miR-3660	CLIP-seq
MIRT890275	hsa-miR-4439	CLIP-seq
MIRT890277	hsa-miR-4513	CLIP-seq
MIRT890280	hsa-miR-4526	CLIP-seq
MIRT890309	hsa-miR-943	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT890241	hsa-miR-3136-5p	CLIP-seq
MIRT890251	hsa-miR-3660	CLIP-seq
MIRT890275	hsa-miR-4439	CLIP-seq
MIRT890277	hsa-miR-4513	CLIP-seq
MIRT890280	hsa-miR-4526	CLIP-seq
MIRT890309	hsa-miR-943	CLIP-seq
MIRT1963767	hsa-miR-106a	CLIP-seq
MIRT1963768	hsa-miR-106b	CLIP-seq
MIRT890226	hsa-miR-1200	CLIP-seq
MIRT1963769	hsa-miR-1224-3p	CLIP-seq
MIRT1963770	hsa-miR-1281	CLIP-seq
MIRT1963771	hsa-miR-1297	CLIP-seq
MIRT1963772	hsa-miR-137	CLIP-seq
MIRT1963773	hsa-miR-142-3p	CLIP-seq
MIRT1963774	hsa-miR-149	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT1963775	hsa-miR-17	CLIP-seq
MIRT1963776	hsa-miR-20a	CLIP-seq
MIRT1963777	hsa-miR-20b	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890236	hsa-miR-24	CLIP-seq
MIRT1963778	hsa-miR-26a	CLIP-seq
MIRT1963779	hsa-miR-26b	CLIP-seq
MIRT1963780	hsa-miR-302a	CLIP-seq
MIRT1963781	hsa-miR-302b	CLIP-seq
MIRT1963782	hsa-miR-302c	CLIP-seq
MIRT1963783	hsa-miR-302d	CLIP-seq
MIRT1963784	hsa-miR-302e	CLIP-seq
MIRT1963785	hsa-miR-302f	CLIP-seq
MIRT1963786	hsa-miR-3064-5p	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT1963787	hsa-miR-3149	CLIP-seq
MIRT890242	hsa-miR-3153	CLIP-seq
MIRT1963788	hsa-miR-3160-5p	CLIP-seq
MIRT1963789	hsa-miR-3174	CLIP-seq
MIRT890244	hsa-miR-3187-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT1963790	hsa-miR-338-5p	CLIP-seq
MIRT890248	hsa-miR-3647-3p	CLIP-seq
MIRT890251	hsa-miR-3660	CLIP-seq
MIRT890252	hsa-miR-3663-5p	CLIP-seq
MIRT1963791	hsa-miR-3664-5p	CLIP-seq
MIRT1963792	hsa-miR-3668	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT1963793	hsa-miR-372	CLIP-seq
MIRT1963794	hsa-miR-373	CLIP-seq
MIRT890256	hsa-miR-374a	CLIP-seq
MIRT890257	hsa-miR-374b	CLIP-seq
MIRT1963795	hsa-miR-3922-5p	CLIP-seq
MIRT1963796	hsa-miR-3924	CLIP-seq
MIRT890262	hsa-miR-411	CLIP-seq
MIRT1963797	hsa-miR-4280	CLIP-seq
MIRT890267	hsa-miR-4282	CLIP-seq
MIRT1963798	hsa-miR-4284	CLIP-seq
MIRT1963799	hsa-miR-4292	CLIP-seq
MIRT1963800	hsa-miR-4308	CLIP-seq
MIRT890273	hsa-miR-4435	CLIP-seq
MIRT1963801	hsa-miR-4438	CLIP-seq
MIRT1963802	hsa-miR-4465	CLIP-seq
MIRT890276	hsa-miR-4470	CLIP-seq
MIRT1963803	hsa-miR-4496	CLIP-seq
MIRT1963804	hsa-miR-4514	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT890280	hsa-miR-4526	CLIP-seq
MIRT890283	hsa-miR-4668-5p	CLIP-seq
MIRT1963805	hsa-miR-4692	CLIP-seq
MIRT890286	hsa-miR-4701-5p	CLIP-seq
MIRT1963806	hsa-miR-4708-3p	CLIP-seq
MIRT1963807	hsa-miR-4714-5p	CLIP-seq
MIRT890288	hsa-miR-4716-5p	CLIP-seq
MIRT1963808	hsa-miR-4731-5p	CLIP-seq
MIRT890292	hsa-miR-4755-3p	CLIP-seq
MIRT1963809	hsa-miR-4762-3p	CLIP-seq
MIRT1963810	hsa-miR-4772-3p	CLIP-seq
MIRT890295	hsa-miR-4781-3p	CLIP-seq
MIRT1963811	hsa-miR-4794	CLIP-seq
MIRT1963812	hsa-miR-5095	CLIP-seq
MIRT1963813	hsa-miR-512-3p	CLIP-seq
MIRT1963814	hsa-miR-519d	CLIP-seq
MIRT1963815	hsa-miR-520a-3p	CLIP-seq
MIRT1963816	hsa-miR-520b	CLIP-seq
MIRT1963817	hsa-miR-520c-3p	CLIP-seq
MIRT1963818	hsa-miR-520d-3p	CLIP-seq
MIRT1963819	hsa-miR-520e	CLIP-seq
MIRT1963820	hsa-miR-520g	CLIP-seq
MIRT1963821	hsa-miR-520h	CLIP-seq
MIRT890302	hsa-miR-548s	CLIP-seq
MIRT890304	hsa-miR-588	CLIP-seq
MIRT1963822	hsa-miR-627	CLIP-seq
MIRT1963823	hsa-miR-656	CLIP-seq
MIRT890307	hsa-miR-885-5p	CLIP-seq
MIRT1963824	hsa-miR-924	CLIP-seq
MIRT1963825	hsa-miR-93	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq
MIRT890226	hsa-miR-1200	CLIP-seq
MIRT1963770	hsa-miR-1281	CLIP-seq
MIRT1963771	hsa-miR-1297	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT1963778	hsa-miR-26a	CLIP-seq
MIRT1963779	hsa-miR-26b	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT890241	hsa-miR-3136-5p	CLIP-seq
MIRT2200086	hsa-miR-3148	CLIP-seq
MIRT1963787	hsa-miR-3149	CLIP-seq
MIRT890244	hsa-miR-3187-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT1963790	hsa-miR-338-5p	CLIP-seq
MIRT890251	hsa-miR-3660	CLIP-seq
MIRT890252	hsa-miR-3663-5p	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT890262	hsa-miR-411	CLIP-seq
MIRT890263	hsa-miR-4251	CLIP-seq
MIRT1963799	hsa-miR-4292	CLIP-seq
MIRT1963800	hsa-miR-4308	CLIP-seq
MIRT890271	hsa-miR-4324	CLIP-seq
MIRT890273	hsa-miR-4435	CLIP-seq
MIRT890275	hsa-miR-4439	CLIP-seq
MIRT1963802	hsa-miR-4465	CLIP-seq
MIRT1963803	hsa-miR-4496	CLIP-seq
MIRT890277	hsa-miR-4513	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT890280	hsa-miR-4526	CLIP-seq
MIRT2200087	hsa-miR-4666-3p	CLIP-seq
MIRT890286	hsa-miR-4701-5p	CLIP-seq
MIRT1963807	hsa-miR-4714-5p	CLIP-seq
MIRT890288	hsa-miR-4716-5p	CLIP-seq
MIRT890292	hsa-miR-4755-3p	CLIP-seq
MIRT1963810	hsa-miR-4772-3p	CLIP-seq
MIRT890295	hsa-miR-4781-3p	CLIP-seq
MIRT2200088	hsa-miR-494	CLIP-seq
MIRT1963812	hsa-miR-5095	CLIP-seq
MIRT890301	hsa-miR-544b	CLIP-seq
MIRT890302	hsa-miR-548s	CLIP-seq
MIRT890303	hsa-miR-580	CLIP-seq
MIRT890304	hsa-miR-588	CLIP-seq
MIRT1963824	hsa-miR-924	CLIP-seq
MIRT890309	hsa-miR-943	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT2386028	hsa-miR-3591-3p	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT2386029	hsa-miR-380	CLIP-seq
MIRT2386030	hsa-miR-4495	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq
MIRT890226	hsa-miR-1200	CLIP-seq
MIRT890231	hsa-miR-181a	CLIP-seq
MIRT890232	hsa-miR-181b	CLIP-seq
MIRT890233	hsa-miR-181c	CLIP-seq
MIRT890234	hsa-miR-181d	CLIP-seq
MIRT890263	hsa-miR-4251	CLIP-seq
MIRT890265	hsa-miR-4262	CLIP-seq
MIRT890271	hsa-miR-4324	CLIP-seq
MIRT890301	hsa-miR-544b	CLIP-seq
MIRT890303	hsa-miR-580	CLIP-seq
MIRT2502830	hsa-miR-1179	CLIP-seq
MIRT890227	hsa-miR-122	CLIP-seq
MIRT2502831	hsa-miR-1228	CLIP-seq
MIRT2502832	hsa-miR-1256	CLIP-seq
MIRT2502833	hsa-miR-1272	CLIP-seq
MIRT2502834	hsa-miR-1273g	CLIP-seq
MIRT1963770	hsa-miR-1281	CLIP-seq
MIRT2502835	hsa-miR-1294	CLIP-seq
MIRT1963771	hsa-miR-1297	CLIP-seq
MIRT2502836	hsa-miR-1305	CLIP-seq
MIRT2502837	hsa-miR-1322	CLIP-seq
MIRT2502838	hsa-miR-136	CLIP-seq
MIRT1963772	hsa-miR-137	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT2502839	hsa-miR-186	CLIP-seq
MIRT2502840	hsa-miR-192	CLIP-seq
MIRT2502841	hsa-miR-2113	CLIP-seq
MIRT2502842	hsa-miR-215	CLIP-seq
MIRT2502843	hsa-miR-216a	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890236	hsa-miR-24	CLIP-seq
MIRT1963778	hsa-miR-26a	CLIP-seq
MIRT1963779	hsa-miR-26b	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT2502844	hsa-miR-3124-3p	CLIP-seq
MIRT890239	hsa-miR-3128	CLIP-seq
MIRT2502845	hsa-miR-3133	CLIP-seq
MIRT890240	hsa-miR-3135b	CLIP-seq
MIRT2502846	hsa-miR-3145-5p	CLIP-seq
MIRT890242	hsa-miR-3153	CLIP-seq
MIRT2502847	hsa-miR-3160-3p	CLIP-seq
MIRT2502848	hsa-miR-3163	CLIP-seq
MIRT2502849	hsa-miR-3168	CLIP-seq
MIRT1963789	hsa-miR-3174	CLIP-seq
MIRT890243	hsa-miR-3182	CLIP-seq
MIRT890244	hsa-miR-3187-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT2502850	hsa-miR-323-3p	CLIP-seq
MIRT2502851	hsa-miR-337-3p	CLIP-seq
MIRT1963790	hsa-miR-338-5p	CLIP-seq
MIRT2502852	hsa-miR-33a	CLIP-seq
MIRT2502853	hsa-miR-33b	CLIP-seq
MIRT2502854	hsa-miR-34c-3p	CLIP-seq
MIRT2386028	hsa-miR-3591-3p	CLIP-seq
MIRT2502855	hsa-miR-3616-5p	CLIP-seq
MIRT2502856	hsa-miR-3619-3p	CLIP-seq
MIRT890248	hsa-miR-3647-3p	CLIP-seq
MIRT2502857	hsa-miR-3647-5p	CLIP-seq
MIRT890249	hsa-miR-3652	CLIP-seq
MIRT2502858	hsa-miR-3655	CLIP-seq
MIRT2502859	hsa-miR-3667-3p	CLIP-seq
MIRT2502860	hsa-miR-3671	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT2502861	hsa-miR-3685	CLIP-seq
MIRT890254	hsa-miR-3688-5p	CLIP-seq
MIRT890255	hsa-miR-3692	CLIP-seq
MIRT2502862	hsa-miR-369-3p	CLIP-seq
MIRT890256	hsa-miR-374a	CLIP-seq
MIRT890257	hsa-miR-374b	CLIP-seq
MIRT2502863	hsa-miR-376c	CLIP-seq
MIRT2386029	hsa-miR-380	CLIP-seq
MIRT2502864	hsa-miR-384	CLIP-seq
MIRT1963795	hsa-miR-3922-5p	CLIP-seq
MIRT1963796	hsa-miR-3924	CLIP-seq
MIRT2502865	hsa-miR-3973	CLIP-seq
MIRT2502866	hsa-miR-410	CLIP-seq
MIRT2502867	hsa-miR-4270	CLIP-seq
MIRT890266	hsa-miR-4272	CLIP-seq
MIRT2502868	hsa-miR-4273	CLIP-seq
MIRT2502869	hsa-miR-4279	CLIP-seq
MIRT890267	hsa-miR-4282	CLIP-seq
MIRT1963798	hsa-miR-4284	CLIP-seq
MIRT1963799	hsa-miR-4292	CLIP-seq
MIRT2502870	hsa-miR-4299	CLIP-seq
MIRT2502871	hsa-miR-4307	CLIP-seq
MIRT1963800	hsa-miR-4308	CLIP-seq
MIRT2502872	hsa-miR-4330	CLIP-seq
MIRT890272	hsa-miR-4430	CLIP-seq
MIRT890274	hsa-miR-4436b-5p	CLIP-seq
MIRT1963801	hsa-miR-4438	CLIP-seq
MIRT2502873	hsa-miR-4441	CLIP-seq
MIRT1963802	hsa-miR-4465	CLIP-seq
MIRT890276	hsa-miR-4470	CLIP-seq
MIRT2502874	hsa-miR-4471	CLIP-seq
MIRT2502875	hsa-miR-4487	CLIP-seq
MIRT2386030	hsa-miR-4495	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT2502876	hsa-miR-4528	CLIP-seq
MIRT2502877	hsa-miR-4529-5p	CLIP-seq
MIRT890281	hsa-miR-4659a-3p	CLIP-seq
MIRT890282	hsa-miR-4659b-3p	CLIP-seq
MIRT890283	hsa-miR-4668-5p	CLIP-seq
MIRT2502878	hsa-miR-4677-5p	CLIP-seq
MIRT2502879	hsa-miR-4685-5p	CLIP-seq
MIRT2502880	hsa-miR-4688	CLIP-seq
MIRT2502881	hsa-miR-4691-5p	CLIP-seq
MIRT1963806	hsa-miR-4708-3p	CLIP-seq
MIRT2502882	hsa-miR-4710	CLIP-seq
MIRT2502883	hsa-miR-4717-5p	CLIP-seq
MIRT890289	hsa-miR-4720-5p	CLIP-seq
MIRT2502884	hsa-miR-4742-3p	CLIP-seq
MIRT2502885	hsa-miR-4753-5p	CLIP-seq
MIRT1963810	hsa-miR-4772-3p	CLIP-seq
MIRT2502886	hsa-miR-4776-5p	CLIP-seq
MIRT2502887	hsa-miR-4777-3p	CLIP-seq
MIRT2502888	hsa-miR-4777-5p	CLIP-seq
MIRT2502889	hsa-miR-4792	CLIP-seq
MIRT890297	hsa-miR-4799-3p	CLIP-seq
MIRT890298	hsa-miR-4799-5p	CLIP-seq
MIRT2502890	hsa-miR-490-3p	CLIP-seq
MIRT2200088	hsa-miR-494	CLIP-seq
MIRT2502891	hsa-miR-495	CLIP-seq
MIRT2502892	hsa-miR-508-5p	CLIP-seq
MIRT1963812	hsa-miR-5095	CLIP-seq
MIRT2502893	hsa-miR-511	CLIP-seq
MIRT2502894	hsa-miR-513c	CLIP-seq
MIRT2502895	hsa-miR-514b-5p	CLIP-seq
MIRT2502896	hsa-miR-518d-5p	CLIP-seq
MIRT2502897	hsa-miR-519b-5p	CLIP-seq
MIRT2502898	hsa-miR-519c-5p	CLIP-seq
MIRT2502899	hsa-miR-520c-5p	CLIP-seq
MIRT2502900	hsa-miR-520d-5p	CLIP-seq
MIRT1963820	hsa-miR-520g	CLIP-seq
MIRT1963821	hsa-miR-520h	CLIP-seq
MIRT2502901	hsa-miR-524-5p	CLIP-seq
MIRT2502902	hsa-miR-526a	CLIP-seq
MIRT2502903	hsa-miR-539	CLIP-seq
MIRT2502904	hsa-miR-548c-3p	CLIP-seq
MIRT2502905	hsa-miR-548p	CLIP-seq
MIRT2502906	hsa-miR-552	CLIP-seq
MIRT2502907	hsa-miR-556-5p	CLIP-seq
MIRT2502908	hsa-miR-558	CLIP-seq
MIRT2502909	hsa-miR-562	CLIP-seq
MIRT2502910	hsa-miR-573	CLIP-seq
MIRT2502911	hsa-miR-579	CLIP-seq
MIRT2502912	hsa-miR-604	CLIP-seq
MIRT2502913	hsa-miR-607	CLIP-seq
MIRT1963822	hsa-miR-627	CLIP-seq
MIRT2502914	hsa-miR-628-5p	CLIP-seq
MIRT2502915	hsa-miR-630	CLIP-seq
MIRT2502916	hsa-miR-645	CLIP-seq
MIRT2502917	hsa-miR-647	CLIP-seq
MIRT2502918	hsa-miR-649	CLIP-seq
MIRT1963823	hsa-miR-656	CLIP-seq
MIRT2502919	hsa-miR-663b	CLIP-seq
MIRT2502920	hsa-miR-764	CLIP-seq
MIRT1963824	hsa-miR-924	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq
MIRT2502830	hsa-miR-1179	CLIP-seq
MIRT890227	hsa-miR-122	CLIP-seq
MIRT2502831	hsa-miR-1228	CLIP-seq
MIRT2502832	hsa-miR-1256	CLIP-seq
MIRT1963770	hsa-miR-1281	CLIP-seq
MIRT2502835	hsa-miR-1294	CLIP-seq
MIRT1963771	hsa-miR-1297	CLIP-seq
MIRT2502836	hsa-miR-1305	CLIP-seq
MIRT2502838	hsa-miR-136	CLIP-seq
MIRT1963772	hsa-miR-137	CLIP-seq
MIRT890230	hsa-miR-1539	CLIP-seq
MIRT2502840	hsa-miR-192	CLIP-seq
MIRT2502842	hsa-miR-215	CLIP-seq
MIRT2502843	hsa-miR-216a	CLIP-seq
MIRT2678103	hsa-miR-217	CLIP-seq
MIRT890235	hsa-miR-2277-3p	CLIP-seq
MIRT890236	hsa-miR-24	CLIP-seq
MIRT1963778	hsa-miR-26a	CLIP-seq
MIRT1963779	hsa-miR-26b	CLIP-seq
MIRT890237	hsa-miR-3074-5p	CLIP-seq
MIRT890238	hsa-miR-3120-3p	CLIP-seq
MIRT2502844	hsa-miR-3124-3p	CLIP-seq
MIRT890239	hsa-miR-3128	CLIP-seq
MIRT890240	hsa-miR-3135b	CLIP-seq
MIRT890242	hsa-miR-3153	CLIP-seq
MIRT2502849	hsa-miR-3168	CLIP-seq
MIRT1963789	hsa-miR-3174	CLIP-seq
MIRT890243	hsa-miR-3182	CLIP-seq
MIRT890244	hsa-miR-3187-3p	CLIP-seq
MIRT890245	hsa-miR-3193	CLIP-seq
MIRT2502850	hsa-miR-323-3p	CLIP-seq
MIRT1963790	hsa-miR-338-5p	CLIP-seq
MIRT2502852	hsa-miR-33a	CLIP-seq
MIRT2502853	hsa-miR-33b	CLIP-seq
MIRT2386028	hsa-miR-3591-3p	CLIP-seq
MIRT2502855	hsa-miR-3616-5p	CLIP-seq
MIRT2502856	hsa-miR-3619-3p	CLIP-seq
MIRT890248	hsa-miR-3647-3p	CLIP-seq
MIRT2502857	hsa-miR-3647-5p	CLIP-seq
MIRT890249	hsa-miR-3652	CLIP-seq
MIRT2502859	hsa-miR-3667-3p	CLIP-seq
MIRT2502860	hsa-miR-3671	CLIP-seq
MIRT890253	hsa-miR-3672	CLIP-seq
MIRT890254	hsa-miR-3688-5p	CLIP-seq
MIRT2502862	hsa-miR-369-3p	CLIP-seq
MIRT890256	hsa-miR-374a	CLIP-seq
MIRT890257	hsa-miR-374b	CLIP-seq
MIRT2502863	hsa-miR-376c	CLIP-seq
MIRT2386029	hsa-miR-380	CLIP-seq
MIRT1963795	hsa-miR-3922-5p	CLIP-seq
MIRT2502865	hsa-miR-3973	CLIP-seq
MIRT2502867	hsa-miR-4270	CLIP-seq
MIRT890266	hsa-miR-4272	CLIP-seq
MIRT2502868	hsa-miR-4273	CLIP-seq
MIRT2502869	hsa-miR-4279	CLIP-seq
MIRT1963798	hsa-miR-4284	CLIP-seq
MIRT1963799	hsa-miR-4292	CLIP-seq
MIRT2502870	hsa-miR-4299	CLIP-seq
MIRT1963800	hsa-miR-4308	CLIP-seq
MIRT2502872	hsa-miR-4330	CLIP-seq
MIRT2678104	hsa-miR-4418	CLIP-seq
MIRT890272	hsa-miR-4430	CLIP-seq
MIRT2502873	hsa-miR-4441	CLIP-seq
MIRT1963802	hsa-miR-4465	CLIP-seq
MIRT890276	hsa-miR-4470	CLIP-seq
MIRT2502874	hsa-miR-4471	CLIP-seq
MIRT2678105	hsa-miR-4494	CLIP-seq
MIRT2386030	hsa-miR-4495	CLIP-seq
MIRT2678106	hsa-miR-4511	CLIP-seq
MIRT890278	hsa-miR-4520a-5p	CLIP-seq
MIRT890279	hsa-miR-4520b-5p	CLIP-seq
MIRT2502876	hsa-miR-4528	CLIP-seq
MIRT2502877	hsa-miR-4529-5p	CLIP-seq
MIRT890281	hsa-miR-4659a-3p	CLIP-seq
MIRT890282	hsa-miR-4659b-3p	CLIP-seq
MIRT890283	hsa-miR-4668-5p	CLIP-seq
MIRT2502878	hsa-miR-4677-5p	CLIP-seq
MIRT2502879	hsa-miR-4685-5p	CLIP-seq
MIRT2502880	hsa-miR-4688	CLIP-seq
MIRT2502881	hsa-miR-4691-5p	CLIP-seq
MIRT2678107	hsa-miR-4699-3p	CLIP-seq
MIRT1963806	hsa-miR-4708-3p	CLIP-seq
MIRT2502882	hsa-miR-4710	CLIP-seq
MIRT2502883	hsa-miR-4717-5p	CLIP-seq
MIRT890289	hsa-miR-4720-5p	CLIP-seq
MIRT2502885	hsa-miR-4753-5p	CLIP-seq
MIRT1963810	hsa-miR-4772-3p	CLIP-seq
MIRT2502886	hsa-miR-4776-5p	CLIP-seq
MIRT2502887	hsa-miR-4777-3p	CLIP-seq
MIRT2502888	hsa-miR-4777-5p	CLIP-seq
MIRT2502889	hsa-miR-4792	CLIP-seq
MIRT890297	hsa-miR-4799-3p	CLIP-seq
MIRT890298	hsa-miR-4799-5p	CLIP-seq
MIRT2502890	hsa-miR-490-3p	CLIP-seq
MIRT2200088	hsa-miR-494	CLIP-seq
MIRT2502891	hsa-miR-495	CLIP-seq
MIRT2678108	hsa-miR-499a-5p	CLIP-seq
MIRT2678109	hsa-miR-509-3-5p	CLIP-seq
MIRT1963812	hsa-miR-5095	CLIP-seq
MIRT2678110	hsa-miR-509-5p	CLIP-seq
MIRT2502893	hsa-miR-511	CLIP-seq
MIRT2502894	hsa-miR-513c	CLIP-seq
MIRT2502895	hsa-miR-514b-5p	CLIP-seq
MIRT2502896	hsa-miR-518d-5p	CLIP-seq
MIRT2502897	hsa-miR-519b-5p	CLIP-seq
MIRT2502898	hsa-miR-519c-5p	CLIP-seq
MIRT2502899	hsa-miR-520c-5p	CLIP-seq
MIRT1963820	hsa-miR-520g	CLIP-seq
MIRT1963821	hsa-miR-520h	CLIP-seq
MIRT2502902	hsa-miR-526a	CLIP-seq
MIRT2502903	hsa-miR-539	CLIP-seq
MIRT2678111	hsa-miR-548b-3p	CLIP-seq
MIRT2502904	hsa-miR-548c-3p	CLIP-seq
MIRT2502905	hsa-miR-548p	CLIP-seq
MIRT2502906	hsa-miR-552	CLIP-seq
MIRT2502909	hsa-miR-562	CLIP-seq
MIRT2502910	hsa-miR-573	CLIP-seq
MIRT2502911	hsa-miR-579	CLIP-seq
MIRT2502912	hsa-miR-604	CLIP-seq
MIRT2502913	hsa-miR-607	CLIP-seq
MIRT1963822	hsa-miR-627	CLIP-seq
MIRT2502914	hsa-miR-628-5p	CLIP-seq
MIRT2502915	hsa-miR-630	CLIP-seq
MIRT2502917	hsa-miR-647	CLIP-seq
MIRT1963823	hsa-miR-656	CLIP-seq
MIRT2502919	hsa-miR-663b	CLIP-seq
MIRT2502920	hsa-miR-764	CLIP-seq
MIRT1963824	hsa-miR-924	CLIP-seq
MIRT890310	hsa-miR-944	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004663	Function	Rab geranylgeranyltransferase activity	TAS	8380507
GO:0005092	Function	GDP-dissociation inhibitor activity	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	21905166, 28514442, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IMP	7957092
GO:0005829	Component	Cytosol	TAS
GO:0005968	Component	Rab-protein geranylgeranyltransferase complex	IBA
GO:0005968	Component	Rab-protein geranylgeranyltransferase complex	IDA	7957092
GO:0005968	Component	Rab-protein geranylgeranyltransferase complex	IEA
GO:0005968	Component	Rab-protein geranylgeranyltransferase complex	TAS	8380507
GO:0006612	Process	Protein targeting to membrane	IMP	7957092
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	7981670
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0018344	Process	Protein geranylgeranylation	IDA	7957092
GO:0018344	Process	Protein geranylgeranylation	TAS	8380507
GO:0031267	Function	Small GTPase binding	IDA	7957092
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	7957092

MIM	HGNC	e!Ensembl
300390	1940	ENSG00000188419

P24386

Protein name

Rab proteins geranylgeranyltransferase component A 1 (Choroideremia protein) (Rab escort protein 1) (REP-1) (TCD protein)

Protein function

Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the g

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00996	GDI	5 → 138	GDP dissociation inhibitor	Family
PF00996	GDI	205 → 543	GDP dissociation inhibitor	Family

Sequence

MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLK
EYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYASQDLHEDVEEAGALQK
NHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKEN
HCDDKTCVPSTSAEDMSENVPIAEDTTEQPKKNRITYSQIIKEGRRFNIDLVSKLLYSRG
LLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLT
FCMEYEKYPDEYKGYEEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKN
FLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAII
DQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAE
EPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQKLFVPYTEMEIENEQ
VEKPRILWALYFNMRDSSDISRSCYNDLPSNVYVCSGPDCGLGNDNAVKQAETLFQEICP
NEDFCPPPPNPEDIILDGDSLQPEASESSAIPEANSETFKESTNLGNLEESSE

Sequence length

653

Interactions

View interactions

	Reactome
			TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain RAB geranylgeranylation RAB GEFs exchange GTP for GDP on RABs

274

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic	rs1555955061	RCV000504914
CHM-related disorder	Pathogenic	rs2520028297, rs886041178, rs886041175, rs1556277815, rs1926208067	RCV003427550 RCV004755834 RCV003909900 RCV004755977 RCV003983834
Chorioretinal atrophy	Likely pathogenic	rs1555968874	RCV000626681
Choroideremia	Likely pathogenic; Pathogenic	rs2147791162, rs2148120604, rs2147662906, rs1931440274, rs2147818976, rs2147706580, rs2147665799, rs2147663153, rs2147667674, rs2147665855, rs2147663380, rs764025364, rs527236048, rs1931625420, rs2148153587 View all (58 more)	RCV001376425 RCV005635144 RCV001587392 RCV005002013 RCV005606820 RCV001534620 RCV001591916 RCV001591917 RCV001801328 RCV001801330 RCV006262005 RCV004796676 RCV000132595 RCV002204557 RCV002249357 RCV002249358 RCV002249359 RCV002250934 RCV002254535 RCV002280605 RCV002306562 RCV002309113 RCV002309207 RCV002309390 RCV002309412 RCV002310250 RCV002310390 RCV002471525 RCV002470606 RCV002470649 RCV000169622 RCV005636694 RCV003153085 RCV000011898 RCV000011899 RCV000011900 RCV000011902 RCV000011903 RCV000011904 RCV001775108 RCV001002947 RCV003324524 RCV005863076 RCV000763635 RCV003314490 RCV003324687 RCV003441157 RCV006271962 RCV003991258 RCV000412301 RCV001542630 RCV000625730 RCV005606670 RCV000990895 RCV001775134 RCV000033030 RCV002249385 RCV000787024 RCV000787004 RCV000049636 RCV000990893 RCV000990894 RCV000990896 RCV001002945 RCV001002948 RCV001002946 RCV001199668 RCV001199667 RCV001199666 RCV001199665 RCV001199664 RCV002281582 RCV002249677 RCV001197084 RCV001809994
Choroideremia, Salla type	Pathogenic	rs386833676	RCV002281558
Night blindness	Likely pathogenic	rs1555968874	RCV000626681
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2148126338, rs2147667674, rs2147665632, rs2148169033, rs1931625420, rs1556217900, rs1930090887, rs1930141997	RCV005912599 RCV005922561 RCV005924376 RCV005924030 RCV005929841 RCV005901173 RCV005913614 RCV005908963
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2147667288, rs2147675545, rs2147665855, rs2147663380, rs527236048, rs1931625420, rs786204761, rs2520272719, rs132630264, rs587776746, rs132630266, rs886041176, rs886041179, rs886041177, rs886041178 View all (34 more)	RCV004815522 RCV004815525 RCV003888322 RCV004816823 RCV003888542 RCV004816974 RCV001075041 RCV004817149 RCV004814883 RCV001073513 RCV004814884 RCV001073362 RCV001075589 RCV001074621 RCV001073739 RCV003888669 RCV004816501 RCV004818364 RCV004818380 RCV004818381 RCV004818400 RCV003890479 RCV003890480 RCV003890482 RCV003890483 RCV003890487 RCV003890488 RCV003890490 RCV004816639 RCV004816659 RCV000504724 RCV001073784 RCV001073299 RCV001075183 RCV001074196 RCV001075011 RCV001074294 RCV001074941 RCV001075297 RCV001075511 RCV001073370 RCV001073539 RCV001075742 RCV001075063 RCV001074496 RCV001075238 RCV001075027 RCV001074312 RCV001073288 RCV004813746 RCV003890363
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs2147667670, rs886041178, rs1603288875	RCV001823322 RCV000787565 RCV000787564
Thyroid cancer, nonmedullary, 1	Pathogenic	rs132630266, rs2520260803	RCV005887433 RCV005931460

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs145707160	RCV005900807
Cervical cancer	Benign; Likely benign	rs138374611	RCV005910809
Clear cell carcinoma of kidney	Benign	rs145707160	RCV005900809
Familial cancer of breast	Likely benign	rs1447339514	RCV005921229
Gastric cancer	Benign; Likely benign	rs145707160, rs775072539, rs138374611	RCV005900810 RCV005871099 RCV005910810
Hepatocellular carcinoma	Benign	rs145707160	RCV005900808
Lung cancer	Benign; Likely benign	rs145707160, rs138374611	RCV005900815 RCV005910811
Malignant tumor of esophagus	Benign	rs775072539	RCV005871096
Melanoma	Benign	rs145707160	RCV005900814
Ovarian serous cystadenocarcinoma	Benign	rs145707160	RCV005900811
Thymoma	Benign	rs145707160	RCV005900812
Uterine carcinosarcoma	Benign	rs10217950	RCV005891254
Uterine corpus endometrial carcinoma	Benign	rs775072539	RCV005871100
Uveal melanoma	Benign	rs775072539	RCV005871098

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	19196539
Anxiety	Associate	33082300
Blindness	Associate	24358126
Choroideremia	Associate	12668061, 15186776, 20027300, 22355242, 23940504, 24358126, 24439297, 24672218, 24791138, 26216097, 26411914, 26720468, 27070432, 27739455, 2798422 View all (11 more)
Color Vision Defects	Associate	23940504
Cone Rod Dystrophies	Associate	23940504
Craniocerebral Trauma	Associate	22275250
Cytomegalovirus Infections	Associate	12668061
Deafness	Associate	1675684
Depressive Disorder	Associate	33082300
Eye Diseases Hereditary	Associate	36729443
Genetic Diseases Inborn	Inhibit	24358126
Heart Diseases	Associate	35068417
Immunologic Deficiency Syndromes	Associate	27739455
Intellectual Disability	Associate	1675684
Leber Congenital Amaurosis	Associate	23940504
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Associate	29045269
Lipoma	Associate	26720468
Parkinson Disease	Associate	17531291, 19196539, 19834617, 21060011, 22275250, 23736218, 24656894, 29730780, 33082300, 35068417
Parkinson Disease	Inhibit	20664293
Refsum Disease Infantile	Associate	36460718, 37778667
Retinal Degeneration	Associate	8294464
Retinal Diseases	Associate	28112135, 32423767, 35621151
Retinitis	Associate	15186776, 24358126
Retinitis Pigmentosa	Associate	23940504, 26216097, 33946315, 35040292
Usher Syndromes	Associate	23940504
Vision Disorders	Associate	22355242, 35621151

CHM (CHM Rab escort protein)