BICD2 (BICD cargo adaptor 2)

Gene

• Entrez ID: 23299
• Gene name: BICD cargo adaptor 2
• Gene symbol: BICD2
• Synonyms (NCBI Gene): SMALED2, SMALED2A, SMALED2B, bA526D8.1
• Chromosome: 9
• Chromosome location: 9q22.31
• Summary: This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141414055	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs192669216	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs371707778	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs398123028	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs398123029	T>G	Pathogenic	Missense variant, coding sequence variant
rs398123030	T>C	Pathogenic	Missense variant, coding sequence variant
rs398123031	T>G	Pathogenic	Missense variant, coding sequence variant
rs398123032	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs779170531	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044920	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs797045412	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064793875	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795760	ATT>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1064795764	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691347	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1263279945	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1445290655	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1564061982	T>C	Pathogenic	Coding sequence variant, missense variant
rs1587667544	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1587668769	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1587668798	G>A	Pathogenic	Missense variant, coding sequence variant
rs1587671674	T>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023191	hsa-miR-124-3p	Microarray	18668037
MIRT028312	hsa-miR-32-5p	Sequencing	20371350
MIRT041505	hsa-miR-193b-3p	CLASH	23622248
MIRT039848	hsa-miR-615-3p	CLASH	23622248
MIRT039040	hsa-miR-766-3p	CLASH	23622248
MIRT035982	hsa-miR-1301-3p	CLASH	23622248
MIRT717865	hsa-miR-216a-5p	HITS-CLIP	19536157
MIRT717864	hsa-miR-4275	HITS-CLIP	19536157
MIRT717863	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT717862	hsa-miR-3657	HITS-CLIP	19536157
MIRT717861	hsa-miR-4669	HITS-CLIP	19536157
MIRT483700	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT606822	hsa-miR-4700-3p	HITS-CLIP	24906430
MIRT606821	hsa-miR-6502-3p	HITS-CLIP	24906430
MIRT606820	hsa-miR-3622a-3p	HITS-CLIP	24906430
MIRT606819	hsa-miR-3622b-3p	HITS-CLIP	24906430
MIRT606818	hsa-miR-5690	HITS-CLIP	24906430
MIRT606817	hsa-miR-4324	HITS-CLIP	24906430
MIRT606816	hsa-miR-6786-5p	HITS-CLIP	24906430
MIRT559230	hsa-miR-6730-3p	HITS-CLIP	24906430
MIRT606815	hsa-miR-4329	HITS-CLIP	24906430
MIRT606814	hsa-miR-4649-3p	HITS-CLIP	24906430
MIRT606813	hsa-miR-4786-5p	HITS-CLIP	24906430
MIRT606812	hsa-miR-769-5p	HITS-CLIP	24906430
MIRT606811	hsa-miR-3160-3p	HITS-CLIP	24906430
MIRT606810	hsa-miR-3197	HITS-CLIP	24906430
MIRT606809	hsa-miR-6087	HITS-CLIP	24906430
MIRT606808	hsa-miR-6804-3p	HITS-CLIP	24906430
MIRT606807	hsa-miR-548v	HITS-CLIP	24906430
MIRT606806	hsa-miR-7160-5p	HITS-CLIP	24906430
MIRT606805	hsa-miR-6827-5p	HITS-CLIP	24906430
MIRT606804	hsa-miR-6090	HITS-CLIP	24906430
MIRT606803	hsa-miR-4300	HITS-CLIP	24906430
MIRT606802	hsa-miR-5591-5p	HITS-CLIP	24906430
MIRT606801	hsa-miR-6726-5p	HITS-CLIP	24906430
MIRT606800	hsa-miR-920	HITS-CLIP	24906430
MIRT606799	hsa-miR-1233-5p	HITS-CLIP	24906430
MIRT606798	hsa-miR-6778-5p	HITS-CLIP	24906430
MIRT606797	hsa-miR-6765-5p	HITS-CLIP	24906430
MIRT606796	hsa-miR-628-5p	HITS-CLIP	24906430
MIRT606795	hsa-miR-939-5p	HITS-CLIP	24906430
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT568278	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT568277	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT568276	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT568275	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT568274	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT568273	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT568272	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT568271	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT568270	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT568269	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT568268	hsa-miR-3133	PAR-CLIP	20371350
MIRT124815	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT124813	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT124812	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT559236	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT488713	hsa-miR-548ag	PAR-CLIP	20371350
MIRT488712	hsa-miR-548ai	PAR-CLIP	20371350
MIRT488711	hsa-miR-548ba	PAR-CLIP	20371350
MIRT488710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT559234	hsa-miR-5700	PAR-CLIP	20371350
MIRT559233	hsa-miR-512-5p	PAR-CLIP	20371350
MIRT559232	hsa-miR-510-5p	PAR-CLIP	20371350
MIRT559231	hsa-miR-1324	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT568278	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT568277	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT568276	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT568275	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT568274	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT568273	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT568272	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT568271	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT568270	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT568269	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT568268	hsa-miR-3133	PAR-CLIP	20371350
MIRT124815	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT124813	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT124812	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568267	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT568266	hsa-miR-194-5p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT559236	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT488713	hsa-miR-548ag	PAR-CLIP	20371350
MIRT488712	hsa-miR-548ai	PAR-CLIP	20371350
MIRT488711	hsa-miR-548ba	PAR-CLIP	20371350
MIRT488710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT559234	hsa-miR-5700	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT488716	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT488715	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT488714	hsa-miR-191-5p	PAR-CLIP	21572407
MIRT488709	hsa-miR-4433b-3p	PAR-CLIP	21572407
MIRT488708	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT488707	hsa-miR-3162-3p	PAR-CLIP	21572407
MIRT488705	hsa-miR-6125	PAR-CLIP	21572407
MIRT488706	hsa-miR-1289	PAR-CLIP	21572407
MIRT488704	hsa-miR-505-3p	PAR-CLIP	21572407
MIRT559235	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT559236	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT559235	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT488713	hsa-miR-548ag	PAR-CLIP	21572407
MIRT488712	hsa-miR-548ai	PAR-CLIP	21572407
MIRT488711	hsa-miR-548ba	PAR-CLIP	21572407
MIRT488710	hsa-miR-570-5p	PAR-CLIP	21572407
MIRT559234	hsa-miR-5700	PAR-CLIP	21572407
MIRT559233	hsa-miR-512-5p	PAR-CLIP	21572407
MIRT559232	hsa-miR-510-5p	PAR-CLIP	21572407
MIRT559231	hsa-miR-1324	PAR-CLIP	21572407
MIRT559230	hsa-miR-6730-3p	PAR-CLIP	21572407
MIRT559229	hsa-miR-3117-5p	PAR-CLIP	21572407
MIRT259184	hsa-miR-1183	PAR-CLIP	21572407
MIRT549187	hsa-miR-4263	PAR-CLIP	21572407
MIRT549186	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT259184	hsa-miR-1183	PAR-CLIP	23592263
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT488716	hsa-miR-141-3p	PAR-CLIP	23592263
MIRT488715	hsa-miR-200a-3p	PAR-CLIP	23592263
MIRT488714	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT488713	hsa-miR-548ag	PAR-CLIP	23592263
MIRT488712	hsa-miR-548ai	PAR-CLIP	23592263
MIRT488711	hsa-miR-548ba	PAR-CLIP	23592263
MIRT488710	hsa-miR-570-5p	PAR-CLIP	23592263
MIRT488709	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT488708	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT488707	hsa-miR-3162-3p	PAR-CLIP	23592263
MIRT488705	hsa-miR-6125	PAR-CLIP	23592263
MIRT488706	hsa-miR-1289	PAR-CLIP	23592263
MIRT488704	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT259184	hsa-miR-1183	PAR-CLIP	23592263
MIRT728205	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728204	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028312	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT717865	hsa-miR-216a-5p	HITS-CLIP	19536157
MIRT717864	hsa-miR-4275	HITS-CLIP	19536157
MIRT717863	hsa-miR-3140-5p	HITS-CLIP	19536157
MIRT717862	hsa-miR-3657	HITS-CLIP	19536157
MIRT717861	hsa-miR-4669	HITS-CLIP	19536157
MIRT483700	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT568278	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT568277	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT568276	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT568275	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT568274	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT568273	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT568272	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT568271	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT568270	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT568269	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT568268	hsa-miR-3133	PAR-CLIP	20371350
MIRT124815	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT124813	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT124812	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT559236	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT488713	hsa-miR-548ag	PAR-CLIP	20371350
MIRT488712	hsa-miR-548ai	PAR-CLIP	20371350
MIRT488711	hsa-miR-548ba	PAR-CLIP	20371350
MIRT488710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT559234	hsa-miR-5700	PAR-CLIP	20371350
MIRT559233	hsa-miR-512-5p	PAR-CLIP	20371350
MIRT559232	hsa-miR-510-5p	PAR-CLIP	20371350
MIRT559231	hsa-miR-1324	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT259184	hsa-miR-1183	PAR-CLIP	20371350
MIRT549187	hsa-miR-4263	PAR-CLIP	20371350
MIRT549186	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT568278	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT568277	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT568276	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT568275	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT568274	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT568273	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT568272	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT568271	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT568270	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT568269	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT568268	hsa-miR-3133	PAR-CLIP	20371350
MIRT124815	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT124813	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT124812	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT568267	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT568266	hsa-miR-194-5p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT559236	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT559235	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT488713	hsa-miR-548ag	PAR-CLIP	20371350
MIRT488712	hsa-miR-548ai	PAR-CLIP	20371350
MIRT488711	hsa-miR-548ba	PAR-CLIP	20371350
MIRT488710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT559234	hsa-miR-5700	PAR-CLIP	20371350
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT488716	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT488715	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT488714	hsa-miR-191-5p	PAR-CLIP	21572407
MIRT488709	hsa-miR-4433b-3p	PAR-CLIP	21572407
MIRT488708	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT488707	hsa-miR-3162-3p	PAR-CLIP	21572407
MIRT488705	hsa-miR-6125	PAR-CLIP	21572407
MIRT488706	hsa-miR-1289	PAR-CLIP	21572407
MIRT488704	hsa-miR-505-3p	PAR-CLIP	21572407
MIRT559235	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT559236	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT559235	hsa-miR-101-3p	PAR-CLIP	21572407
MIRT488713	hsa-miR-548ag	PAR-CLIP	21572407
MIRT488712	hsa-miR-548ai	PAR-CLIP	21572407
MIRT488711	hsa-miR-548ba	PAR-CLIP	21572407
MIRT488710	hsa-miR-570-5p	PAR-CLIP	21572407
MIRT559234	hsa-miR-5700	PAR-CLIP	21572407
MIRT559233	hsa-miR-512-5p	PAR-CLIP	21572407
MIRT559232	hsa-miR-510-5p	PAR-CLIP	21572407
MIRT559231	hsa-miR-1324	PAR-CLIP	21572407
MIRT559230	hsa-miR-6730-3p	PAR-CLIP	21572407
MIRT559229	hsa-miR-3117-5p	PAR-CLIP	21572407
MIRT259184	hsa-miR-1183	PAR-CLIP	21572407
MIRT549187	hsa-miR-4263	PAR-CLIP	21572407
MIRT549186	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT259184	hsa-miR-1183	PAR-CLIP	23592263
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT488716	hsa-miR-141-3p	PAR-CLIP	23592263
MIRT488715	hsa-miR-200a-3p	PAR-CLIP	23592263
MIRT488714	hsa-miR-191-5p	PAR-CLIP	23592263
MIRT488713	hsa-miR-548ag	PAR-CLIP	23592263
MIRT488712	hsa-miR-548ai	PAR-CLIP	23592263
MIRT488711	hsa-miR-548ba	PAR-CLIP	23592263
MIRT488710	hsa-miR-570-5p	PAR-CLIP	23592263
MIRT488709	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT488708	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT488707	hsa-miR-3162-3p	PAR-CLIP	23592263
MIRT488705	hsa-miR-6125	PAR-CLIP	23592263
MIRT488706	hsa-miR-1289	PAR-CLIP	23592263
MIRT488704	hsa-miR-505-3p	PAR-CLIP	23592263
MIRT483700	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT259184	hsa-miR-1183	PAR-CLIP	23592263
MIRT821387	hsa-miR-1224-5p	CLIP-seq
MIRT821388	hsa-miR-1253	CLIP-seq
MIRT821389	hsa-miR-1304	CLIP-seq
MIRT821390	hsa-miR-3150b-3p	CLIP-seq
MIRT821391	hsa-miR-3670	CLIP-seq
MIRT821392	hsa-miR-3915	CLIP-seq
MIRT821393	hsa-miR-4268	CLIP-seq
MIRT821394	hsa-miR-4663	CLIP-seq
MIRT821395	hsa-miR-4689	CLIP-seq
MIRT821396	hsa-miR-4784	CLIP-seq
MIRT821397	hsa-miR-720	CLIP-seq
MIRT821398	hsa-miR-101	CLIP-seq
MIRT821399	hsa-miR-105	CLIP-seq
MIRT821400	hsa-miR-106a	CLIP-seq
MIRT821401	hsa-miR-106b	CLIP-seq
MIRT821402	hsa-miR-1182	CLIP-seq
MIRT821403	hsa-miR-1208	CLIP-seq
MIRT821404	hsa-miR-124	CLIP-seq
MIRT821405	hsa-miR-1245b-3p	CLIP-seq
MIRT821406	hsa-miR-1302	CLIP-seq
MIRT821407	hsa-miR-134	CLIP-seq
MIRT821408	hsa-miR-144	CLIP-seq
MIRT821409	hsa-miR-17	CLIP-seq
MIRT821410	hsa-miR-186	CLIP-seq
MIRT821411	hsa-miR-1912	CLIP-seq
MIRT821412	hsa-miR-193a-3p	CLIP-seq
MIRT821413	hsa-miR-193a-5p	CLIP-seq
MIRT821414	hsa-miR-193b	CLIP-seq
MIRT821415	hsa-miR-194	CLIP-seq
MIRT821416	hsa-miR-20a	CLIP-seq
MIRT821417	hsa-miR-20b	CLIP-seq
MIRT821418	hsa-miR-2113	CLIP-seq
MIRT821419	hsa-miR-23a	CLIP-seq
MIRT821420	hsa-miR-23b	CLIP-seq
MIRT821421	hsa-miR-23c	CLIP-seq
MIRT821422	hsa-miR-3118	CLIP-seq
MIRT821423	hsa-miR-3128	CLIP-seq
MIRT821424	hsa-miR-3130-5p	CLIP-seq
MIRT821425	hsa-miR-3154	CLIP-seq
MIRT821426	hsa-miR-3164	CLIP-seq
MIRT821427	hsa-miR-3185	CLIP-seq
MIRT821428	hsa-miR-330-3p	CLIP-seq
MIRT821429	hsa-miR-338-5p	CLIP-seq
MIRT821430	hsa-miR-34b	CLIP-seq
MIRT821431	hsa-miR-369-3p	CLIP-seq
MIRT821432	hsa-miR-371-5p	CLIP-seq
MIRT821433	hsa-miR-371b-5p	CLIP-seq
MIRT821434	hsa-miR-374a	CLIP-seq
MIRT821435	hsa-miR-374b	CLIP-seq
MIRT821436	hsa-miR-3913-3p	CLIP-seq
MIRT821437	hsa-miR-4287	CLIP-seq
MIRT821438	hsa-miR-4298	CLIP-seq
MIRT821439	hsa-miR-4315	CLIP-seq
MIRT821440	hsa-miR-4317	CLIP-seq
MIRT821441	hsa-miR-4420	CLIP-seq
MIRT821442	hsa-miR-4482	CLIP-seq
MIRT821443	hsa-miR-4493	CLIP-seq
MIRT821444	hsa-miR-4502	CLIP-seq
MIRT821445	hsa-miR-4522	CLIP-seq
MIRT821446	hsa-miR-4637	CLIP-seq
MIRT821447	hsa-miR-4665-3p	CLIP-seq
MIRT821448	hsa-miR-4670-3p	CLIP-seq
MIRT821449	hsa-miR-4685-3p	CLIP-seq
MIRT821450	hsa-miR-4698	CLIP-seq
MIRT821451	hsa-miR-4731-5p	CLIP-seq
MIRT821452	hsa-miR-4761-5p	CLIP-seq
MIRT821453	hsa-miR-4790-5p	CLIP-seq
MIRT821454	hsa-miR-4797-5p	CLIP-seq
MIRT821455	hsa-miR-495	CLIP-seq
MIRT821456	hsa-miR-506	CLIP-seq
MIRT821457	hsa-miR-510	CLIP-seq
MIRT821458	hsa-miR-518a-5p	CLIP-seq
MIRT821459	hsa-miR-519a	CLIP-seq
MIRT821460	hsa-miR-519d	CLIP-seq
MIRT821461	hsa-miR-527	CLIP-seq
MIRT821462	hsa-miR-548t	CLIP-seq
MIRT821463	hsa-miR-599	CLIP-seq
MIRT821464	hsa-miR-659	CLIP-seq
MIRT821397	hsa-miR-720	CLIP-seq
MIRT821465	hsa-miR-889	CLIP-seq
MIRT821466	hsa-miR-892b	CLIP-seq
MIRT821467	hsa-miR-93	CLIP-seq
MIRT1545755	hsa-miR-4802-5p	CLIP-seq
MIRT821398	hsa-miR-101	CLIP-seq
MIRT1942811	hsa-miR-1178	CLIP-seq
MIRT821405	hsa-miR-1245b-3p	CLIP-seq
MIRT1942812	hsa-miR-1290	CLIP-seq
MIRT1942813	hsa-miR-141	CLIP-seq
MIRT821408	hsa-miR-144	CLIP-seq
MIRT1942814	hsa-miR-191	CLIP-seq
MIRT1942815	hsa-miR-200a	CLIP-seq
MIRT1942816	hsa-miR-3167	CLIP-seq
MIRT821431	hsa-miR-369-3p	CLIP-seq
MIRT821434	hsa-miR-374a	CLIP-seq
MIRT821435	hsa-miR-374b	CLIP-seq
MIRT821436	hsa-miR-3913-3p	CLIP-seq
MIRT821440	hsa-miR-4317	CLIP-seq
MIRT1942817	hsa-miR-4477b	CLIP-seq
MIRT1942818	hsa-miR-4646-3p	CLIP-seq
MIRT1942819	hsa-miR-4659a-3p	CLIP-seq
MIRT1942820	hsa-miR-4659b-3p	CLIP-seq
MIRT821448	hsa-miR-4670-3p	CLIP-seq
MIRT1942821	hsa-miR-4684-5p	CLIP-seq
MIRT1942822	hsa-miR-485-3p	CLIP-seq
MIRT1942823	hsa-miR-493	CLIP-seq
MIRT821457	hsa-miR-510	CLIP-seq
MIRT821458	hsa-miR-518a-5p	CLIP-seq
MIRT821461	hsa-miR-527	CLIP-seq
MIRT821464	hsa-miR-659	CLIP-seq
MIRT1942824	hsa-miR-876-5p	CLIP-seq
MIRT821465	hsa-miR-889	CLIP-seq
MIRT821466	hsa-miR-892b	CLIP-seq
MIRT821398	hsa-miR-101	CLIP-seq
MIRT821405	hsa-miR-1245b-3p	CLIP-seq
MIRT821388	hsa-miR-1253	CLIP-seq
MIRT1942813	hsa-miR-141	CLIP-seq
MIRT821408	hsa-miR-144	CLIP-seq
MIRT1942814	hsa-miR-191	CLIP-seq
MIRT1942815	hsa-miR-200a	CLIP-seq
MIRT2181584	hsa-miR-2114	CLIP-seq
MIRT821429	hsa-miR-338-5p	CLIP-seq
MIRT2181585	hsa-miR-3660	CLIP-seq
MIRT2181586	hsa-miR-3691-3p	CLIP-seq
MIRT821431	hsa-miR-369-3p	CLIP-seq
MIRT2181587	hsa-miR-370	CLIP-seq
MIRT821434	hsa-miR-374a	CLIP-seq
MIRT821435	hsa-miR-374b	CLIP-seq
MIRT821436	hsa-miR-3913-3p	CLIP-seq
MIRT2181588	hsa-miR-4256	CLIP-seq
MIRT821440	hsa-miR-4317	CLIP-seq
MIRT2181589	hsa-miR-4480	CLIP-seq
MIRT2181590	hsa-miR-451b	CLIP-seq
MIRT2181591	hsa-miR-4526	CLIP-seq
MIRT821448	hsa-miR-4670-3p	CLIP-seq
MIRT1942821	hsa-miR-4684-5p	CLIP-seq
MIRT821457	hsa-miR-510	CLIP-seq
MIRT821458	hsa-miR-518a-5p	CLIP-seq
MIRT821461	hsa-miR-527	CLIP-seq
MIRT2181592	hsa-miR-626	CLIP-seq
MIRT2181593	hsa-miR-885-3p	CLIP-seq
MIRT2384777	hsa-miR-3194-3p	CLIP-seq
MIRT1545755	hsa-miR-4802-5p	CLIP-seq
MIRT2444797	hsa-miR-1911	CLIP-seq
MIRT2444798	hsa-miR-3156-3p	CLIP-seq
MIRT2444799	hsa-miR-4301	CLIP-seq
MIRT2444800	hsa-miR-532-3p	CLIP-seq
MIRT821398	hsa-miR-101	CLIP-seq
MIRT821399	hsa-miR-105	CLIP-seq
MIRT821400	hsa-miR-106a	CLIP-seq
MIRT821401	hsa-miR-106b	CLIP-seq
MIRT1942811	hsa-miR-1178	CLIP-seq
MIRT821405	hsa-miR-1245b-3p	CLIP-seq
MIRT2485093	hsa-miR-1263	CLIP-seq
MIRT2485094	hsa-miR-1294	CLIP-seq
MIRT821408	hsa-miR-144	CLIP-seq
MIRT821409	hsa-miR-17	CLIP-seq
MIRT1942814	hsa-miR-191	CLIP-seq
MIRT821415	hsa-miR-194	CLIP-seq
MIRT821416	hsa-miR-20a	CLIP-seq
MIRT821417	hsa-miR-20b	CLIP-seq
MIRT821418	hsa-miR-2113	CLIP-seq
MIRT2181584	hsa-miR-2114	CLIP-seq
MIRT2485095	hsa-miR-3124-3p	CLIP-seq
MIRT821390	hsa-miR-3150b-3p	CLIP-seq
MIRT2485096	hsa-miR-3160-5p	CLIP-seq
MIRT2485097	hsa-miR-3176	CLIP-seq
MIRT821428	hsa-miR-330-3p	CLIP-seq
MIRT821429	hsa-miR-338-5p	CLIP-seq
MIRT2485098	hsa-miR-3663-3p	CLIP-seq
MIRT2485099	hsa-miR-3673	CLIP-seq
MIRT821431	hsa-miR-369-3p	CLIP-seq
MIRT2181587	hsa-miR-370	CLIP-seq
MIRT821432	hsa-miR-371-5p	CLIP-seq
MIRT821433	hsa-miR-371b-5p	CLIP-seq
MIRT821434	hsa-miR-374a	CLIP-seq
MIRT821435	hsa-miR-374b	CLIP-seq
MIRT821436	hsa-miR-3913-3p	CLIP-seq
MIRT2485100	hsa-miR-3922-3p	CLIP-seq
MIRT2485101	hsa-miR-412	CLIP-seq
MIRT2485102	hsa-miR-4316	CLIP-seq
MIRT821440	hsa-miR-4317	CLIP-seq
MIRT2485103	hsa-miR-4446-5p	CLIP-seq
MIRT2485104	hsa-miR-4455	CLIP-seq
MIRT1942817	hsa-miR-4477b	CLIP-seq
MIRT2485105	hsa-miR-450b-5p	CLIP-seq
MIRT2485106	hsa-miR-452	CLIP-seq
MIRT1942818	hsa-miR-4646-3p	CLIP-seq
MIRT2485107	hsa-miR-4652-3p	CLIP-seq
MIRT821448	hsa-miR-4670-3p	CLIP-seq
MIRT2485108	hsa-miR-4676-3p	CLIP-seq
MIRT1942821	hsa-miR-4684-5p	CLIP-seq
MIRT821395	hsa-miR-4689	CLIP-seq
MIRT821450	hsa-miR-4698	CLIP-seq
MIRT2485109	hsa-miR-4699-5p	CLIP-seq
MIRT2485110	hsa-miR-4719	CLIP-seq
MIRT2485111	hsa-miR-4726-3p	CLIP-seq
MIRT2485112	hsa-miR-4755-5p	CLIP-seq
MIRT821452	hsa-miR-4761-5p	CLIP-seq
MIRT821396	hsa-miR-4784	CLIP-seq
MIRT1942822	hsa-miR-485-3p	CLIP-seq
MIRT1942823	hsa-miR-493	CLIP-seq
MIRT2485113	hsa-miR-507	CLIP-seq
MIRT821457	hsa-miR-510	CLIP-seq
MIRT2485114	hsa-miR-513b	CLIP-seq
MIRT821458	hsa-miR-518a-5p	CLIP-seq
MIRT821459	hsa-miR-519a	CLIP-seq
MIRT821460	hsa-miR-519d	CLIP-seq
MIRT821461	hsa-miR-527	CLIP-seq
MIRT821462	hsa-miR-548t	CLIP-seq
MIRT2485115	hsa-miR-557	CLIP-seq
MIRT2485116	hsa-miR-568	CLIP-seq
MIRT2485117	hsa-miR-582-5p	CLIP-seq
MIRT2485118	hsa-miR-590-3p	CLIP-seq
MIRT821463	hsa-miR-599	CLIP-seq
MIRT2485119	hsa-miR-609	CLIP-seq
MIRT2181592	hsa-miR-626	CLIP-seq
MIRT2485120	hsa-miR-642a	CLIP-seq
MIRT821464	hsa-miR-659	CLIP-seq
MIRT821465	hsa-miR-889	CLIP-seq
MIRT821467	hsa-miR-93	CLIP-seq
MIRT2485121	hsa-miR-943	CLIP-seq
MIRT821398	hsa-miR-101	CLIP-seq
MIRT821399	hsa-miR-105	CLIP-seq
MIRT1942811	hsa-miR-1178	CLIP-seq
MIRT821405	hsa-miR-1245b-3p	CLIP-seq
MIRT2485093	hsa-miR-1263	CLIP-seq
MIRT2485094	hsa-miR-1294	CLIP-seq
MIRT821408	hsa-miR-144	CLIP-seq
MIRT1942814	hsa-miR-191	CLIP-seq
MIRT821418	hsa-miR-2113	CLIP-seq
MIRT2181584	hsa-miR-2114	CLIP-seq
MIRT2485095	hsa-miR-3124-3p	CLIP-seq
MIRT821390	hsa-miR-3150b-3p	CLIP-seq
MIRT821428	hsa-miR-330-3p	CLIP-seq
MIRT2485098	hsa-miR-3663-3p	CLIP-seq
MIRT2485099	hsa-miR-3673	CLIP-seq
MIRT821431	hsa-miR-369-3p	CLIP-seq
MIRT821432	hsa-miR-371-5p	CLIP-seq
MIRT821433	hsa-miR-371b-5p	CLIP-seq
MIRT821434	hsa-miR-374a	CLIP-seq
MIRT821435	hsa-miR-374b	CLIP-seq
MIRT821436	hsa-miR-3913-3p	CLIP-seq
MIRT2485101	hsa-miR-412	CLIP-seq
MIRT2485102	hsa-miR-4316	CLIP-seq
MIRT821440	hsa-miR-4317	CLIP-seq
MIRT2485103	hsa-miR-4446-5p	CLIP-seq
MIRT2485104	hsa-miR-4455	CLIP-seq
MIRT1942817	hsa-miR-4477b	CLIP-seq
MIRT2485105	hsa-miR-450b-5p	CLIP-seq
MIRT2485106	hsa-miR-452	CLIP-seq
MIRT1942818	hsa-miR-4646-3p	CLIP-seq
MIRT821448	hsa-miR-4670-3p	CLIP-seq
MIRT2485108	hsa-miR-4676-3p	CLIP-seq
MIRT1942821	hsa-miR-4684-5p	CLIP-seq
MIRT821395	hsa-miR-4689	CLIP-seq
MIRT2485109	hsa-miR-4699-5p	CLIP-seq
MIRT2485110	hsa-miR-4719	CLIP-seq
MIRT2485111	hsa-miR-4726-3p	CLIP-seq
MIRT2485112	hsa-miR-4755-5p	CLIP-seq
MIRT821452	hsa-miR-4761-5p	CLIP-seq
MIRT821396	hsa-miR-4784	CLIP-seq
MIRT1942822	hsa-miR-485-3p	CLIP-seq
MIRT1942823	hsa-miR-493	CLIP-seq
MIRT2485113	hsa-miR-507	CLIP-seq
MIRT821457	hsa-miR-510	CLIP-seq
MIRT2485114	hsa-miR-513b	CLIP-seq
MIRT821458	hsa-miR-518a-5p	CLIP-seq
MIRT821461	hsa-miR-527	CLIP-seq
MIRT2485115	hsa-miR-557	CLIP-seq
MIRT2485116	hsa-miR-568	CLIP-seq
MIRT2485117	hsa-miR-582-5p	CLIP-seq
MIRT2485118	hsa-miR-590-3p	CLIP-seq
MIRT821463	hsa-miR-599	CLIP-seq
MIRT2485119	hsa-miR-609	CLIP-seq
MIRT2485120	hsa-miR-642a	CLIP-seq
MIRT821464	hsa-miR-659	CLIP-seq
MIRT2485121	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16417406, 20386726, 23664119, 24482476, 28514442, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	20386726
GO:0005635	Component	Nuclear envelope	IEA
GO:0005642	Component	Annulate lamellae	IDA	20386726
GO:0005643	Component	Nuclear pore	IDA	20386726
GO:0005643	Component	Nuclear pore	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	17139249
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IMP	17139249
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	25962623
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IEA
GO:0015031	Process	Protein transport	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0034067	Process	Protein localization to Golgi apparatus	IBA
GO:0034067	Process	Protein localization to Golgi apparatus	IEA
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	25962623
GO:0034452	Function	Dynactin binding	IBA
GO:0034452	Function	Dynactin binding	IEA
GO:0034452	Function	Dynactin binding	ISS
GO:0051028	Process	MRNA transport	IEA
GO:0051642	Process	Centrosome localization	IMP	20386726
GO:0051959	Function	Dynein light intermediate chain binding	IBA
GO:0051959	Function	Dynein light intermediate chain binding	IEA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IBA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IGI	17139249
GO:0070840	Function	Dynein complex binding	IBA
GO:0070840	Function	Dynein complex binding	IEA
GO:0070840	Function	Dynein complex binding	ISS
GO:0072385	Process	Minus-end-directed organelle transport along microtubule	IEA
GO:0072385	Process	Minus-end-directed organelle transport along microtubule	ISS
GO:0072393	Process	Microtubule anchoring at microtubule organizing center	IBA
GO:0072393	Process	Microtubule anchoring at microtubule organizing center	IEA
GO:0072393	Process	Microtubule anchoring at microtubule organizing center	ISS

Other IDs

• MIM: 609797
• HGNC: 17208
• e!Ensembl: ENSG00000185963

Protein

• UniProt ID: Q8TD16
• Protein name: Protein bicaudal D homolog 2 (Bic-D 2)
• Protein function: Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynac
• PDB: 6OFP, 6PSE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09730	BicD	83 → 801	Microtubule-associated protein Bicaudal-D	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSAPSEEEEYARLVMEAQPEWLRAEVKRLSHELAETTREKIQAAEYGLAVLEEKHQLKLQ
  FEELEVDYEAIRSEMEQLKEAFGQAHTNHKKVAADGESREESLIQESASKEQYYVRKVLE
  LQTELKQLRNVLTNTQSENERLASVAQELKEINQNVEIQRGRLRDDIKEYKFREARLLQD
  YSELEEENISLQKQVSVLRQNQVEFEGLKHEIKRLEEETEYLNSQLEDAIRLKEISERQL
  EEALETLKTEREQKNSLRKELSHYMSINDSFYTSHLHVSLDGLKFSDDAAEPNNDAEALV
  NGFEHGGLAKLPLDNKTSTPKKEGLAPPSPSLVSDLLSELNISEIQKLKQQLMQMEREKA
  GLLATLQDTQKQLEHTRGSLSEQQEKVTRLTENLSALRRLQASKERQTALDNEKDRDSHE
  DGDYYEVDINGPEILACKYHVAVAEAGELREQLKALRSTHEAREAQHAEEKGRYEAEGQA
  LTEKVSLLEKASRQDRELLARLEKELKKVSDVAGETQGSLSVAQDELVTFSEELANLYHH
  VCMCNNETPNRVMLDYYREGQGGAGRTSPGGRTSPEARGRRSPILLPKGLLAPEAGRADG
  GTGDSSPSPGSSLPSPLSDPRREPMNIYNLIAIIRDQIKHLQAAVDRTTELSRQRIASQE
  LGPAVDKDKEALMEEILKLKSLLSTKREQITTLRTVLKANKQTAEVALANLKSKYENEKA
  MVTETMMKLRNELKALKEDAATFSSLRAMFATRCDEYITQLDEMQRQLAAAEDEKKTLNS
  LLRMAIQQKLALTQRLELLELDHEQTRRGRAKAAPKTKPATPSL

• Sequence length: 824

Pathways

KEGG:

Viral life cycle - HIV-1

Reactome:

COPI-independent Golgi-to-ER retrograde traffic

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
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures	Likely pathogenic; Pathogenic	rs376312313, rs2131504104, rs797045412, rs1554705383, rs2490453128, rs1853488507, rs1587671674, rs1587668077, rs1587668748, rs1587668769, rs398123028, rs371707778, rs398123030, rs1263279945, rs1853349816	RCV001318183 RCV001883381 RCV000258929 RCV003325417 RCV003152991 RCV003742355 RCV003989072 RCV003581710 RCV000802975 RCV000801806 RCV000805633 RCV000049274 RCV000049275 RCV000049277 RCV000995709 RCV001069097 RCV001262508	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hereditary axonal motor and sensory neuropathy	Likely pathogenic; Pathogenic	rs797045412	RCV003311712	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal myopathy	Pathogenic	rs398123028	RCV004776427	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant	Pathogenic; Likely pathogenic	rs1587668798, rs1587671674, rs398123028	RCV000789080 RCV000789079 RCV000789078	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic	rs2131500576	RCV001391545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy	Pathogenic	rs398123028	RCV000509172	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy with lower extremity predominance	Pathogenic	rs2490442124	RCV004526518	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy, lower extremity-predominant, 2, AD	Likely pathogenic; Pathogenic	rs797045412	RCV000195105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant	Likely pathogenic; Pathogenic	rs2131499515, rs1587668852, rs797045412, rs2490459149, rs1064795760, rs1131691347, rs1564061982	RCV005623096 RCV002086755 RCV000754661 RCV003148268 RCV000754663 RCV001526465 RCV000754662	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHILDHOOD-ONSET LOWER EXTREMITY-PREDOMINANT SPINAL MUSCULAR ATROPHY-2A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICD2-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BICD2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CORTICAL ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DISTAL MUSCULAR DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia 3A	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, type 5B	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelvic girdle muscle weakness	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT	—	HPO	★★☆☆☆ 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
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18579581		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37849306	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arthrogryposis	Arthrogryposis	Pubtator	25497877, 28635954, 30054298	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	27751653, 28635954, 29274205		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	30054298		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	30054298	Associate	★☆☆☆☆ Found in Text Mining only
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	Spinal Muscular Atrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	36930595	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31965981	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	33122805	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	35896821	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 5q Deletion Syndrome	Chromosome 5q deletion syndrome	Pubtator	23664119	Associate	★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	29253858		★☆☆☆☆ Found in Text Mining only
Classical Lissencephaly	Lissencephaly	BEFREE	29038173		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen syndrome	Pubtator	35338243	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital foot contraction deformities	Congenital foot contraction deformities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	25497877	Associate	★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	23664120, 30536747		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	30536747		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG	30054298		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	33686258	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	28635954	Associate	★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	35896821	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	29369808		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	31655624		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28215293		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31153780		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	18579581		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	23664116, 23664119, 25497877, 35338243, 35354563, 36930595	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27784775, 31561939		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myositis	Myositis	BEFREE	29369808		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29253858	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24256262		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37047781	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	28215293		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28542137		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29203636		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31153780		★☆☆☆☆ Found in Text Mining only
Paresis	Paresis	Pubtator	37047781	Associate	★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian Syndrome	BEFREE	27751653		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	29274205		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	GENOMICS_ENGLAND_DG	30054298		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30054298	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	37047781	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	23664120, 27784775, 30536747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	23664116, 28635954, 30054298, 35354563, 36930595, 37047781	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	23664116, 23664119, 23664120, 25497877, 27751653, 28635954, 28883039, 29273277, 29528393, 30536747		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant	Spinal Muscular Atrophy	BEFREE	26998597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy, LOWER EXTREMITY-PREDOMINANT	GENOMICS_ENGLAND_DG	23664116, 30054298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy, LOWER EXTREMITY-PREDOMINANT	UNIPROT_DG	23664116, 23664119, 23664120, 28635954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy, LOWER EXTREMITY-PREDOMINANT	ORPHANET_DG	23664119		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy	UNIPROT_DG	27751653, 28635954, 30054298		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy	GENOMICS_ENGLAND_DG	30054298		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT	Spinal Muscular Atrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	29369808		★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only