GTPBP2 (GTP binding protein 2)

Gene

• Entrez ID: 54676
• Gene name: GTP binding protein 2
• Gene symbol: GTPBP2
• Synonyms (NCBI Gene): JABELS
• Chromosome: 6
• Chromosome location: 6p21.1
• Summary: GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biolog

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1007812513	G>A	Pathogenic	Coding sequence variant, stop gained
rs1252019134	C>T	Likely-pathogenic	Splice donor variant
rs1554143424	C>A	Pathogenic	Splice acceptor variant
rs1554143448	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554143844	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036558	hsa-miR-942-5p	CLASH	23622248
MIRT509822	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509826	hsa-miR-501-3p	HITS-CLIP	21572407
MIRT509825	hsa-miR-502-3p	HITS-CLIP	21572407
MIRT509824	hsa-miR-3919	HITS-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509823	hsa-miR-3924	HITS-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509826	hsa-miR-501-3p	PAR-CLIP	20371350
MIRT509825	hsa-miR-502-3p	PAR-CLIP	20371350
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT509823	hsa-miR-3924	PAR-CLIP	20371350
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT557457	hsa-miR-320b	PAR-CLIP	21572407
MIRT557456	hsa-miR-320a	PAR-CLIP	21572407
MIRT557455	hsa-miR-320c	PAR-CLIP	21572407
MIRT557454	hsa-miR-320d	PAR-CLIP	21572407
MIRT557453	hsa-miR-4429	PAR-CLIP	21572407
MIRT557452	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT557450	hsa-miR-577	PAR-CLIP	21572407
MIRT557451	hsa-miR-6760-5p	PAR-CLIP	21572407
MIRT557449	hsa-miR-4780	PAR-CLIP	21572407
MIRT557448	hsa-miR-5681a	PAR-CLIP	21572407
MIRT557447	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT557446	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT557445	hsa-miR-1236-5p	PAR-CLIP	21572407
MIRT557444	hsa-miR-4765	PAR-CLIP	21572407
MIRT557443	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT557442	hsa-miR-6077	PAR-CLIP	21572407
MIRT557441	hsa-miR-1291	PAR-CLIP	21572407
MIRT557440	hsa-miR-6775-3p	PAR-CLIP	21572407
MIRT557438	hsa-miR-6851-3p	PAR-CLIP	21572407
MIRT557439	hsa-miR-9-3p	PAR-CLIP	21572407
MIRT557437	hsa-miR-3915	PAR-CLIP	21572407
MIRT557436	hsa-miR-1238-5p	PAR-CLIP	21572407
MIRT557435	hsa-miR-4758-5p	PAR-CLIP	21572407
MIRT557434	hsa-miR-4658	PAR-CLIP	21572407
MIRT557433	hsa-miR-6790-5p	PAR-CLIP	21572407
MIRT557432	hsa-miR-328-3p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT509824	hsa-miR-3919	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT509824	hsa-miR-3919	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509826	hsa-miR-501-3p	PAR-CLIP	23446348
MIRT509825	hsa-miR-502-3p	PAR-CLIP	23446348
MIRT509824	hsa-miR-3919	PAR-CLIP	23446348
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509823	hsa-miR-3924	PAR-CLIP	23446348
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT476005	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT476004	hsa-miR-548ab	PAR-CLIP	23592263
MIRT476003	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT476002	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT476001	hsa-miR-548ak	PAR-CLIP	23592263
MIRT476000	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT475999	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT475998	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT475997	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT475996	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT475995	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT475994	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT475993	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT475992	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT475991	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT475990	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT475989	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT475988	hsa-miR-548i	PAR-CLIP	23592263
MIRT475987	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT475986	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT475985	hsa-miR-548w	PAR-CLIP	23592263
MIRT475984	hsa-miR-548y	PAR-CLIP	23592263
MIRT475983	hsa-miR-559	PAR-CLIP	23592263
MIRT475982	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT475981	hsa-miR-622	PAR-CLIP	23592263
MIRT475980	hsa-miR-4330	PAR-CLIP	23592263
MIRT475979	hsa-miR-204-3p	PAR-CLIP	23592263
MIRT475978	hsa-miR-4646-5p	PAR-CLIP	23592263
MIRT475977	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT475976	hsa-miR-619-5p	PAR-CLIP	23592263
MIRT475974	hsa-miR-6506-5p	PAR-CLIP	23592263
MIRT475975	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT475973	hsa-miR-3153	PAR-CLIP	23592263
MIRT475972	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT475971	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT475970	hsa-miR-4314	PAR-CLIP	23592263
MIRT475969	hsa-miR-4715-3p	PAR-CLIP	23592263
MIRT557445	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT557436	hsa-miR-1238-5p	PAR-CLIP	26701625
MIRT557441	hsa-miR-1291	PAR-CLIP	26701625
MIRT557432	hsa-miR-328-3p	PAR-CLIP	26701625
MIRT557434	hsa-miR-4658	PAR-CLIP	26701625
MIRT557435	hsa-miR-4758-5p	PAR-CLIP	26701625
MIRT557444	hsa-miR-4765	PAR-CLIP	26701625
MIRT557449	hsa-miR-4780	PAR-CLIP	26701625
MIRT557440	hsa-miR-6775-3p	PAR-CLIP	26701625
MIRT557433	hsa-miR-6790-5p	PAR-CLIP	26701625
MIRT557438	hsa-miR-6851-3p	PAR-CLIP	26701625
MIRT509822	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509826	hsa-miR-501-3p	HITS-CLIP	21572407
MIRT509825	hsa-miR-502-3p	HITS-CLIP	21572407
MIRT509824	hsa-miR-3919	HITS-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509823	hsa-miR-3924	HITS-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509826	hsa-miR-501-3p	PAR-CLIP	20371350
MIRT509825	hsa-miR-502-3p	PAR-CLIP	20371350
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT509823	hsa-miR-3924	PAR-CLIP	20371350
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT557457	hsa-miR-320b	PAR-CLIP	21572407
MIRT557456	hsa-miR-320a	PAR-CLIP	21572407
MIRT557455	hsa-miR-320c	PAR-CLIP	21572407
MIRT557454	hsa-miR-320d	PAR-CLIP	21572407
MIRT557453	hsa-miR-4429	PAR-CLIP	21572407
MIRT557452	hsa-miR-651-3p	PAR-CLIP	21572407
MIRT557450	hsa-miR-577	PAR-CLIP	21572407
MIRT557451	hsa-miR-6760-5p	PAR-CLIP	21572407
MIRT557449	hsa-miR-4780	PAR-CLIP	21572407
MIRT557448	hsa-miR-5681a	PAR-CLIP	21572407
MIRT557447	hsa-miR-1252-5p	PAR-CLIP	21572407
MIRT557446	hsa-miR-3928-3p	PAR-CLIP	21572407
MIRT557445	hsa-miR-1236-5p	PAR-CLIP	21572407
MIRT557444	hsa-miR-4765	PAR-CLIP	21572407
MIRT557443	hsa-miR-7160-5p	PAR-CLIP	21572407
MIRT557442	hsa-miR-6077	PAR-CLIP	21572407
MIRT557441	hsa-miR-1291	PAR-CLIP	21572407
MIRT557440	hsa-miR-6775-3p	PAR-CLIP	21572407
MIRT557438	hsa-miR-6851-3p	PAR-CLIP	21572407
MIRT557439	hsa-miR-9-3p	PAR-CLIP	21572407
MIRT557437	hsa-miR-3915	PAR-CLIP	21572407
MIRT557436	hsa-miR-1238-5p	PAR-CLIP	21572407
MIRT557435	hsa-miR-4758-5p	PAR-CLIP	21572407
MIRT557434	hsa-miR-4658	PAR-CLIP	21572407
MIRT557433	hsa-miR-6790-5p	PAR-CLIP	21572407
MIRT557432	hsa-miR-328-3p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT509824	hsa-miR-3919	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509826	hsa-miR-501-3p	PAR-CLIP	21572407
MIRT509825	hsa-miR-502-3p	PAR-CLIP	21572407
MIRT509824	hsa-miR-3919	PAR-CLIP	21572407
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509823	hsa-miR-3924	PAR-CLIP	21572407
MIRT509827	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT360934	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509826	hsa-miR-501-3p	PAR-CLIP	23446348
MIRT509825	hsa-miR-502-3p	PAR-CLIP	23446348
MIRT509824	hsa-miR-3919	PAR-CLIP	23446348
MIRT360928	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509823	hsa-miR-3924	PAR-CLIP	23446348
MIRT509822	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT476005	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT476004	hsa-miR-548ab	PAR-CLIP	23592263
MIRT476003	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT476002	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT476001	hsa-miR-548ak	PAR-CLIP	23592263
MIRT476000	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT475999	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT475998	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT475997	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT475996	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT475995	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT475994	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT475993	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT475992	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT475991	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT475990	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT475989	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT475988	hsa-miR-548i	PAR-CLIP	23592263
MIRT475987	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT475986	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT475985	hsa-miR-548w	PAR-CLIP	23592263
MIRT475984	hsa-miR-548y	PAR-CLIP	23592263
MIRT475983	hsa-miR-559	PAR-CLIP	23592263
MIRT475982	hsa-miR-1245b-3p	PAR-CLIP	23592263
MIRT475981	hsa-miR-622	PAR-CLIP	23592263
MIRT475980	hsa-miR-4330	PAR-CLIP	23592263
MIRT475979	hsa-miR-204-3p	PAR-CLIP	23592263
MIRT475978	hsa-miR-4646-5p	PAR-CLIP	23592263
MIRT475977	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT475976	hsa-miR-619-5p	PAR-CLIP	23592263
MIRT475974	hsa-miR-6506-5p	PAR-CLIP	23592263
MIRT475975	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT475973	hsa-miR-3153	PAR-CLIP	23592263
MIRT475972	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT475971	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT475970	hsa-miR-4314	PAR-CLIP	23592263
MIRT475969	hsa-miR-4715-3p	PAR-CLIP	23592263
MIRT1038028	hsa-miR-1200	CLIP-seq
MIRT1038029	hsa-miR-1208	CLIP-seq
MIRT1038030	hsa-miR-1283	CLIP-seq
MIRT1038031	hsa-miR-1914	CLIP-seq
MIRT1038032	hsa-miR-2392	CLIP-seq
MIRT1038033	hsa-miR-3065-3p	CLIP-seq
MIRT1038034	hsa-miR-3140-5p	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT1038036	hsa-miR-3192	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038038	hsa-miR-339-5p	CLIP-seq
MIRT1038039	hsa-miR-342-5p	CLIP-seq
MIRT1038040	hsa-miR-3616-5p	CLIP-seq
MIRT1038041	hsa-miR-3647-5p	CLIP-seq
MIRT1038042	hsa-miR-3688-5p	CLIP-seq
MIRT1038043	hsa-miR-4271	CLIP-seq
MIRT1038044	hsa-miR-4420	CLIP-seq
MIRT1038045	hsa-miR-4471	CLIP-seq
MIRT1038046	hsa-miR-4530	CLIP-seq
MIRT1038047	hsa-miR-4536	CLIP-seq
MIRT1038048	hsa-miR-4651	CLIP-seq
MIRT1038049	hsa-miR-4664-5p	CLIP-seq
MIRT1038050	hsa-miR-4693-3p	CLIP-seq
MIRT1038051	hsa-miR-4725-3p	CLIP-seq
MIRT1038052	hsa-miR-4795-5p	CLIP-seq
MIRT1038053	hsa-miR-4796-3p	CLIP-seq
MIRT1038054	hsa-miR-486-3p	CLIP-seq
MIRT1038055	hsa-miR-519a	CLIP-seq
MIRT1038056	hsa-miR-519b-3p	CLIP-seq
MIRT1038057	hsa-miR-519c-3p	CLIP-seq
MIRT1038058	hsa-miR-548ad	CLIP-seq
MIRT1038059	hsa-miR-548h	CLIP-seq
MIRT1038060	hsa-miR-548j	CLIP-seq
MIRT1038061	hsa-miR-573	CLIP-seq
MIRT1038062	hsa-miR-591	CLIP-seq
MIRT1038063	hsa-miR-608	CLIP-seq
MIRT1038064	hsa-miR-629	CLIP-seq
MIRT1038065	hsa-miR-640	CLIP-seq
MIRT1038066	hsa-miR-758	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038046	hsa-miR-4530	CLIP-seq
MIRT1038065	hsa-miR-640	CLIP-seq
MIRT2007712	hsa-miR-125a-5p	CLIP-seq
MIRT2007713	hsa-miR-125b	CLIP-seq
MIRT2007714	hsa-miR-1271	CLIP-seq
MIRT2007715	hsa-miR-1273f	CLIP-seq
MIRT2007716	hsa-miR-1275	CLIP-seq
MIRT1038030	hsa-miR-1283	CLIP-seq
MIRT2007717	hsa-miR-1285	CLIP-seq
MIRT2007718	hsa-miR-132	CLIP-seq
MIRT2007719	hsa-miR-1343	CLIP-seq
MIRT2007720	hsa-miR-182	CLIP-seq
MIRT2007721	hsa-miR-212	CLIP-seq
MIRT2007722	hsa-miR-3065-5p	CLIP-seq
MIRT2007723	hsa-miR-3074-5p	CLIP-seq
MIRT2007724	hsa-miR-3124-3p	CLIP-seq
MIRT1038034	hsa-miR-3140-5p	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT2007725	hsa-miR-3175	CLIP-seq
MIRT2007726	hsa-miR-3187-5p	CLIP-seq
MIRT2007727	hsa-miR-326	CLIP-seq
MIRT2007728	hsa-miR-330-5p	CLIP-seq
MIRT1038039	hsa-miR-342-5p	CLIP-seq
MIRT2007729	hsa-miR-378g	CLIP-seq
MIRT2007730	hsa-miR-3927	CLIP-seq
MIRT2007731	hsa-miR-4319	CLIP-seq
MIRT2007732	hsa-miR-4436a	CLIP-seq
MIRT2007733	hsa-miR-4451	CLIP-seq
MIRT2007734	hsa-miR-4486	CLIP-seq
MIRT2007735	hsa-miR-4525	CLIP-seq
MIRT1038048	hsa-miR-4651	CLIP-seq
MIRT2007736	hsa-miR-4662a-5p	CLIP-seq
MIRT1038049	hsa-miR-4664-5p	CLIP-seq
MIRT2007737	hsa-miR-4665-5p	CLIP-seq
MIRT2007738	hsa-miR-4701-5p	CLIP-seq
MIRT2007739	hsa-miR-4704-3p	CLIP-seq
MIRT2007740	hsa-miR-4723-5p	CLIP-seq
MIRT2007741	hsa-miR-4732-3p	CLIP-seq
MIRT1038053	hsa-miR-4796-3p	CLIP-seq
MIRT1038054	hsa-miR-486-3p	CLIP-seq
MIRT2007742	hsa-miR-491-5p	CLIP-seq
MIRT1038058	hsa-miR-548ad	CLIP-seq
MIRT2007743	hsa-miR-588	CLIP-seq
MIRT2007744	hsa-miR-605	CLIP-seq
MIRT1038063	hsa-miR-608	CLIP-seq
MIRT2007745	hsa-miR-612	CLIP-seq
MIRT2007746	hsa-miR-625	CLIP-seq
MIRT1038064	hsa-miR-629	CLIP-seq
MIRT2007747	hsa-miR-670	CLIP-seq
MIRT2007748	hsa-miR-938	CLIP-seq
MIRT2007749	hsa-miR-96	CLIP-seq
MIRT2240416	hsa-miR-1197	CLIP-seq
MIRT2240417	hsa-miR-1207-5p	CLIP-seq
MIRT1038029	hsa-miR-1208	CLIP-seq
MIRT2240418	hsa-miR-1253	CLIP-seq
MIRT2240419	hsa-miR-1265	CLIP-seq
MIRT2007714	hsa-miR-1271	CLIP-seq
MIRT1038030	hsa-miR-1283	CLIP-seq
MIRT2240420	hsa-miR-1292	CLIP-seq
MIRT2007718	hsa-miR-132	CLIP-seq
MIRT2240421	hsa-miR-1324	CLIP-seq
MIRT2007720	hsa-miR-182	CLIP-seq
MIRT2240422	hsa-miR-183	CLIP-seq
MIRT2240423	hsa-miR-1972	CLIP-seq
MIRT2240424	hsa-miR-202	CLIP-seq
MIRT2007721	hsa-miR-212	CLIP-seq
MIRT1038032	hsa-miR-2392	CLIP-seq
MIRT2240425	hsa-miR-2467-3p	CLIP-seq
MIRT1038033	hsa-miR-3065-3p	CLIP-seq
MIRT2007722	hsa-miR-3065-5p	CLIP-seq
MIRT2240426	hsa-miR-3117-5p	CLIP-seq
MIRT2007724	hsa-miR-3124-3p	CLIP-seq
MIRT2240427	hsa-miR-3125	CLIP-seq
MIRT2240428	hsa-miR-3148	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT2240429	hsa-miR-3166	CLIP-seq
MIRT2240430	hsa-miR-3202	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038039	hsa-miR-342-5p	CLIP-seq
MIRT2240431	hsa-miR-3681	CLIP-seq
MIRT1038042	hsa-miR-3688-5p	CLIP-seq
MIRT2240432	hsa-miR-3916	CLIP-seq
MIRT2240433	hsa-miR-3925-3p	CLIP-seq
MIRT2240434	hsa-miR-3928	CLIP-seq
MIRT2240435	hsa-miR-3945	CLIP-seq
MIRT2240436	hsa-miR-4253	CLIP-seq
MIRT1038044	hsa-miR-4420	CLIP-seq
MIRT2240437	hsa-miR-4428	CLIP-seq
MIRT2007732	hsa-miR-4436a	CLIP-seq
MIRT1038045	hsa-miR-4471	CLIP-seq
MIRT2240438	hsa-miR-4494	CLIP-seq
MIRT2240439	hsa-miR-4499	CLIP-seq
MIRT1038046	hsa-miR-4530	CLIP-seq
MIRT1038047	hsa-miR-4536	CLIP-seq
MIRT2240440	hsa-miR-4650-5p	CLIP-seq
MIRT1038048	hsa-miR-4651	CLIP-seq
MIRT1038049	hsa-miR-4664-5p	CLIP-seq
MIRT2240441	hsa-miR-4666-5p	CLIP-seq
MIRT1038050	hsa-miR-4693-3p	CLIP-seq
MIRT2007739	hsa-miR-4704-3p	CLIP-seq
MIRT2240442	hsa-miR-4736	CLIP-seq
MIRT2240443	hsa-miR-4747-5p	CLIP-seq
MIRT2240444	hsa-miR-4763-3p	CLIP-seq
MIRT2240445	hsa-miR-4772-3p	CLIP-seq
MIRT1038053	hsa-miR-4796-3p	CLIP-seq
MIRT2240446	hsa-miR-4802-3p	CLIP-seq
MIRT1038054	hsa-miR-486-3p	CLIP-seq
MIRT2007742	hsa-miR-491-5p	CLIP-seq
MIRT2240447	hsa-miR-495	CLIP-seq
MIRT1038058	hsa-miR-548ad	CLIP-seq
MIRT2240448	hsa-miR-580	CLIP-seq
MIRT1038063	hsa-miR-608	CLIP-seq
MIRT1038064	hsa-miR-629	CLIP-seq
MIRT1038065	hsa-miR-640	CLIP-seq
MIRT2007747	hsa-miR-670	CLIP-seq
MIRT2240449	hsa-miR-766	CLIP-seq
MIRT2007749	hsa-miR-96	CLIP-seq
MIRT2240419	hsa-miR-1265	CLIP-seq
MIRT2388854	hsa-miR-146b-3p	CLIP-seq
MIRT1038032	hsa-miR-2392	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT2388855	hsa-miR-3173-5p	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038039	hsa-miR-342-5p	CLIP-seq
MIRT1038043	hsa-miR-4271	CLIP-seq
MIRT2007732	hsa-miR-4436a	CLIP-seq
MIRT1038045	hsa-miR-4471	CLIP-seq
MIRT1038047	hsa-miR-4536	CLIP-seq
MIRT1038048	hsa-miR-4651	CLIP-seq
MIRT1038049	hsa-miR-4664-5p	CLIP-seq
MIRT1038050	hsa-miR-4693-3p	CLIP-seq
MIRT1038051	hsa-miR-4725-3p	CLIP-seq
MIRT1038053	hsa-miR-4796-3p	CLIP-seq
MIRT1038054	hsa-miR-486-3p	CLIP-seq
MIRT2007742	hsa-miR-491-5p	CLIP-seq
MIRT1038058	hsa-miR-548ad	CLIP-seq
MIRT1038063	hsa-miR-608	CLIP-seq
MIRT1038064	hsa-miR-629	CLIP-seq
MIRT2388856	hsa-miR-874	CLIP-seq
MIRT2240419	hsa-miR-1265	CLIP-seq
MIRT1038032	hsa-miR-2392	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT1038039	hsa-miR-342-5p	CLIP-seq
MIRT1038047	hsa-miR-4536	CLIP-seq
MIRT1038048	hsa-miR-4651	CLIP-seq
MIRT1038049	hsa-miR-4664-5p	CLIP-seq
MIRT1038050	hsa-miR-4693-3p	CLIP-seq
MIRT1038053	hsa-miR-4796-3p	CLIP-seq
MIRT1038054	hsa-miR-486-3p	CLIP-seq
MIRT1038063	hsa-miR-608	CLIP-seq
MIRT1038064	hsa-miR-629	CLIP-seq
MIRT2007722	hsa-miR-3065-5p	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT2437523	hsa-miR-1227	CLIP-seq
MIRT2437524	hsa-miR-1273e	CLIP-seq
MIRT2007717	hsa-miR-1285	CLIP-seq
MIRT1038031	hsa-miR-1914	CLIP-seq
MIRT2437525	hsa-miR-29a	CLIP-seq
MIRT2437526	hsa-miR-29b	CLIP-seq
MIRT2437527	hsa-miR-29c	CLIP-seq
MIRT2007722	hsa-miR-3065-5p	CLIP-seq
MIRT2437528	hsa-miR-3121-5p	CLIP-seq
MIRT1038035	hsa-miR-3151	CLIP-seq
MIRT2437529	hsa-miR-3176	CLIP-seq
MIRT2007726	hsa-miR-3187-5p	CLIP-seq
MIRT2007727	hsa-miR-326	CLIP-seq
MIRT2007728	hsa-miR-330-5p	CLIP-seq
MIRT1038038	hsa-miR-339-5p	CLIP-seq
MIRT2007729	hsa-miR-378g	CLIP-seq
MIRT2437530	hsa-miR-3922-3p	CLIP-seq
MIRT2437531	hsa-miR-3943	CLIP-seq
MIRT2437532	hsa-miR-4323	CLIP-seq
MIRT2437533	hsa-miR-4447	CLIP-seq
MIRT2437534	hsa-miR-4472	CLIP-seq
MIRT2437535	hsa-miR-4480	CLIP-seq
MIRT2007734	hsa-miR-4486	CLIP-seq
MIRT2240438	hsa-miR-4494	CLIP-seq
MIRT2437536	hsa-miR-4522	CLIP-seq
MIRT2437537	hsa-miR-4640-5p	CLIP-seq
MIRT2437538	hsa-miR-4659a-3p	CLIP-seq
MIRT2437539	hsa-miR-4659b-3p	CLIP-seq
MIRT2437540	hsa-miR-4726-5p	CLIP-seq
MIRT2437541	hsa-miR-4758-3p	CLIP-seq
MIRT2007742	hsa-miR-491-5p	CLIP-seq
MIRT2437542	hsa-miR-499a-5p	CLIP-seq
MIRT2007745	hsa-miR-612	CLIP-seq
MIRT2437543	hsa-miR-661	CLIP-seq
MIRT2437544	hsa-miR-9	CLIP-seq
MIRT2543952	hsa-miR-103a	CLIP-seq
MIRT2543953	hsa-miR-107	CLIP-seq
MIRT1038028	hsa-miR-1200	CLIP-seq
MIRT2543954	hsa-miR-1207-3p	CLIP-seq
MIRT2240417	hsa-miR-1207-5p	CLIP-seq
MIRT2437523	hsa-miR-1227	CLIP-seq
MIRT2240418	hsa-miR-1253	CLIP-seq
MIRT2437524	hsa-miR-1273e	CLIP-seq
MIRT2007715	hsa-miR-1273f	CLIP-seq
MIRT2007717	hsa-miR-1285	CLIP-seq
MIRT2543955	hsa-miR-1301	CLIP-seq
MIRT2543956	hsa-miR-1304	CLIP-seq
MIRT1038031	hsa-miR-1914	CLIP-seq
MIRT2240424	hsa-miR-202	CLIP-seq
MIRT2543957	hsa-miR-224	CLIP-seq
MIRT2543958	hsa-miR-2278	CLIP-seq
MIRT2543959	hsa-miR-2355-3p	CLIP-seq
MIRT2240425	hsa-miR-2467-3p	CLIP-seq
MIRT1038033	hsa-miR-3065-3p	CLIP-seq
MIRT2543960	hsa-miR-3120-3p	CLIP-seq
MIRT2437528	hsa-miR-3121-5p	CLIP-seq
MIRT2240427	hsa-miR-3125	CLIP-seq
MIRT2543961	hsa-miR-3140-3p	CLIP-seq
MIRT1038034	hsa-miR-3140-5p	CLIP-seq
MIRT2240428	hsa-miR-3148	CLIP-seq
MIRT2437529	hsa-miR-3176	CLIP-seq
MIRT2543962	hsa-miR-3183	CLIP-seq
MIRT2007726	hsa-miR-3187-5p	CLIP-seq
MIRT1038036	hsa-miR-3192	CLIP-seq
MIRT2007727	hsa-miR-326	CLIP-seq
MIRT2007728	hsa-miR-330-5p	CLIP-seq
MIRT2543963	hsa-miR-335	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038038	hsa-miR-339-5p	CLIP-seq
MIRT2543964	hsa-miR-3616-3p	CLIP-seq
MIRT2007729	hsa-miR-378g	CLIP-seq
MIRT2240432	hsa-miR-3916	CLIP-seq
MIRT2437530	hsa-miR-3922-3p	CLIP-seq
MIRT2543965	hsa-miR-3926	CLIP-seq
MIRT2007730	hsa-miR-3927	CLIP-seq
MIRT2543966	hsa-miR-3942-5p	CLIP-seq
MIRT2437531	hsa-miR-3943	CLIP-seq
MIRT2240435	hsa-miR-3945	CLIP-seq
MIRT2240436	hsa-miR-4253	CLIP-seq
MIRT2543967	hsa-miR-4287	CLIP-seq
MIRT2437532	hsa-miR-4323	CLIP-seq
MIRT2543968	hsa-miR-4435	CLIP-seq
MIRT2543969	hsa-miR-4436b-3p	CLIP-seq
MIRT2007733	hsa-miR-4451	CLIP-seq
MIRT2543970	hsa-miR-4468	CLIP-seq
MIRT2543971	hsa-miR-4469	CLIP-seq
MIRT2437535	hsa-miR-4480	CLIP-seq
MIRT2007734	hsa-miR-4486	CLIP-seq
MIRT2240438	hsa-miR-4494	CLIP-seq
MIRT2240439	hsa-miR-4499	CLIP-seq
MIRT2437536	hsa-miR-4522	CLIP-seq
MIRT1038046	hsa-miR-4530	CLIP-seq
MIRT2543972	hsa-miR-4640-3p	CLIP-seq
MIRT2543973	hsa-miR-4646-3p	CLIP-seq
MIRT2437538	hsa-miR-4659a-3p	CLIP-seq
MIRT2437539	hsa-miR-4659b-3p	CLIP-seq
MIRT2543974	hsa-miR-4660	CLIP-seq
MIRT2240441	hsa-miR-4666-5p	CLIP-seq
MIRT2543975	hsa-miR-4685-3p	CLIP-seq
MIRT2543976	hsa-miR-4703-5p	CLIP-seq
MIRT2543977	hsa-miR-4721	CLIP-seq
MIRT2543978	hsa-miR-4723-3p	CLIP-seq
MIRT2240442	hsa-miR-4736	CLIP-seq
MIRT2437541	hsa-miR-4758-3p	CLIP-seq
MIRT2240444	hsa-miR-4763-3p	CLIP-seq
MIRT2240446	hsa-miR-4802-3p	CLIP-seq
MIRT2437542	hsa-miR-499a-5p	CLIP-seq
MIRT2543979	hsa-miR-5047	CLIP-seq
MIRT2543980	hsa-miR-520f	CLIP-seq
MIRT1038059	hsa-miR-548h	CLIP-seq
MIRT1038060	hsa-miR-548j	CLIP-seq
MIRT2543981	hsa-miR-548s	CLIP-seq
MIRT2240448	hsa-miR-580	CLIP-seq
MIRT1038062	hsa-miR-591	CLIP-seq
MIRT2007745	hsa-miR-612	CLIP-seq
MIRT1038065	hsa-miR-640	CLIP-seq
MIRT1038066	hsa-miR-758	CLIP-seq
MIRT2437544	hsa-miR-9	CLIP-seq
MIRT2543952	hsa-miR-103a	CLIP-seq
MIRT2543953	hsa-miR-107	CLIP-seq
MIRT1038028	hsa-miR-1200	CLIP-seq
MIRT2543954	hsa-miR-1207-3p	CLIP-seq
MIRT2240417	hsa-miR-1207-5p	CLIP-seq
MIRT2437523	hsa-miR-1227	CLIP-seq
MIRT2240418	hsa-miR-1253	CLIP-seq
MIRT2437524	hsa-miR-1273e	CLIP-seq
MIRT2007717	hsa-miR-1285	CLIP-seq
MIRT2543955	hsa-miR-1301	CLIP-seq
MIRT2543956	hsa-miR-1304	CLIP-seq
MIRT1038031	hsa-miR-1914	CLIP-seq
MIRT2240424	hsa-miR-202	CLIP-seq
MIRT2543957	hsa-miR-224	CLIP-seq
MIRT2543958	hsa-miR-2278	CLIP-seq
MIRT2543959	hsa-miR-2355-3p	CLIP-seq
MIRT2240425	hsa-miR-2467-3p	CLIP-seq
MIRT1038033	hsa-miR-3065-3p	CLIP-seq
MIRT2437528	hsa-miR-3121-5p	CLIP-seq
MIRT2240427	hsa-miR-3125	CLIP-seq
MIRT2543961	hsa-miR-3140-3p	CLIP-seq
MIRT1038034	hsa-miR-3140-5p	CLIP-seq
MIRT2240428	hsa-miR-3148	CLIP-seq
MIRT2437529	hsa-miR-3176	CLIP-seq
MIRT2543962	hsa-miR-3183	CLIP-seq
MIRT2007726	hsa-miR-3187-5p	CLIP-seq
MIRT1038036	hsa-miR-3192	CLIP-seq
MIRT2007727	hsa-miR-326	CLIP-seq
MIRT2007728	hsa-miR-330-5p	CLIP-seq
MIRT2543963	hsa-miR-335	CLIP-seq
MIRT1038037	hsa-miR-338-3p	CLIP-seq
MIRT1038038	hsa-miR-339-5p	CLIP-seq
MIRT2543964	hsa-miR-3616-3p	CLIP-seq
MIRT1038040	hsa-miR-3616-5p	CLIP-seq
MIRT1038041	hsa-miR-3647-5p	CLIP-seq
MIRT2007729	hsa-miR-378g	CLIP-seq
MIRT2240432	hsa-miR-3916	CLIP-seq
MIRT2437530	hsa-miR-3922-3p	CLIP-seq
MIRT2543965	hsa-miR-3926	CLIP-seq
MIRT2007730	hsa-miR-3927	CLIP-seq
MIRT2240435	hsa-miR-3945	CLIP-seq
MIRT2240436	hsa-miR-4253	CLIP-seq
MIRT2543967	hsa-miR-4287	CLIP-seq
MIRT2543968	hsa-miR-4435	CLIP-seq
MIRT2543969	hsa-miR-4436b-3p	CLIP-seq
MIRT2007733	hsa-miR-4451	CLIP-seq
MIRT2543970	hsa-miR-4468	CLIP-seq
MIRT2543971	hsa-miR-4469	CLIP-seq
MIRT2437535	hsa-miR-4480	CLIP-seq
MIRT2007734	hsa-miR-4486	CLIP-seq
MIRT2240438	hsa-miR-4494	CLIP-seq
MIRT2240439	hsa-miR-4499	CLIP-seq
MIRT2437536	hsa-miR-4522	CLIP-seq
MIRT1038046	hsa-miR-4530	CLIP-seq
MIRT2543972	hsa-miR-4640-3p	CLIP-seq
MIRT2543973	hsa-miR-4646-3p	CLIP-seq
MIRT2437538	hsa-miR-4659a-3p	CLIP-seq
MIRT2437539	hsa-miR-4659b-3p	CLIP-seq
MIRT2543974	hsa-miR-4660	CLIP-seq
MIRT2240441	hsa-miR-4666-5p	CLIP-seq
MIRT2543975	hsa-miR-4685-3p	CLIP-seq
MIRT2543977	hsa-miR-4721	CLIP-seq
MIRT2543978	hsa-miR-4723-3p	CLIP-seq
MIRT2240442	hsa-miR-4736	CLIP-seq
MIRT2240444	hsa-miR-4763-3p	CLIP-seq
MIRT1038052	hsa-miR-4795-5p	CLIP-seq
MIRT2240446	hsa-miR-4802-3p	CLIP-seq
MIRT2437542	hsa-miR-499a-5p	CLIP-seq
MIRT2543979	hsa-miR-5047	CLIP-seq
MIRT1038055	hsa-miR-519a	CLIP-seq
MIRT1038056	hsa-miR-519b-3p	CLIP-seq
MIRT1038057	hsa-miR-519c-3p	CLIP-seq
MIRT2543980	hsa-miR-520f	CLIP-seq
MIRT1038059	hsa-miR-548h	CLIP-seq
MIRT1038060	hsa-miR-548j	CLIP-seq
MIRT2543981	hsa-miR-548s	CLIP-seq
MIRT1038061	hsa-miR-573	CLIP-seq
MIRT2240448	hsa-miR-580	CLIP-seq
MIRT1038062	hsa-miR-591	CLIP-seq
MIRT2007745	hsa-miR-612	CLIP-seq
MIRT1038065	hsa-miR-640	CLIP-seq
MIRT1038066	hsa-miR-758	CLIP-seq
MIRT2437544	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003746	Function	Translation elongation factor activity	IDA	30108131
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	23455924, 32296183
GO:0005525	Function	GTP binding	IDA	30108131
GO:0005525	Function	GTP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0006414	Process	Translational elongation	IBA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0070966	Process	Nuclear-transcribed mRNA catabolic process, no-go decay	IEA
GO:0072344	Process	Rescue of stalled ribosome	IEA
GO:1904678	Function	Alpha-aminoacyl-tRNA binding	IDA	30108131
GO:1904678	Function	Alpha-aminoacyl-tRNA binding	IEA

Other IDs

• MIM: 607434
• HGNC: 4670
• e!Ensembl: ENSG00000172432

Protein

• UniProt ID: Q9BX10
• Protein name: GTP-binding protein 2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	172 → 412	Elongation factor Tu GTP binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary. {ECO:0000269|PubMed:11054535}.
• Sequence:

  MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLP
  PEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEM
  RASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGN
  VDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYS
  DSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREH
  LGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQ
  QFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVP
  EVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
  DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEK
  IHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
  GF

• Sequence length: 602

Pathways

Reactome:

Platelet degranulation

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
Jaberi-Elahi syndrome	Likely pathogenic; Pathogenic	rs2127838700, rs2127840239, rs764897448, rs745610059, rs1409184000, rs1554143424, rs1554143844, rs1554143448, rs1007812513, rs1252019134, rs1768790302	RCV001782238 RCV001807965 RCV002281893 RCV002281894 RCV002810018 RCV000655889 RCV000655890 RCV000655891 RCV000655892 RCV000985150 RCV001251123	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GTPBP2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25575132		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29449720	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29449720	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	25061210		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25061210		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29449720	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JABERI-ELAHI SYNDROME	JABERI-ELAHI SYNDROME	GENOMICS_ENGLAND_DG	25061210		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JABERI-ELAHI SYNDROME	JABERI-ELAHI SYNDROME	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29449720		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29449720		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	29449720		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, variant type	Xeroderma Pigmentosum	CLINVAR_DG	11121129, 18703314		★☆☆☆☆ Found in Text Mining only