DNM2 (dynamin 2)

Gene

• Entrez ID: 1785
• Gene name: Dynamin 2
• Gene symbol: DNM2
• Synonyms (NCBI Gene): CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909088	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909089	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909090	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909091	C>T	Pathogenic	Coding sequence variant, missense variant
rs121909092	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909093	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121909094	T>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909095	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs144250390	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148900299	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs199927590	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs200191870	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs201972896	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201979143	C>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202155679	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606772	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs368075301	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373161548	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs375151459	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514735	T>G	Pathogenic	Coding sequence variant, missense variant
rs587783594	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587783595	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587783596	A>C,G	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs587783597	T>C	Pathogenic	Coding sequence variant, missense variant
rs587783598	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs746903992	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773598203	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864309705	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs879254086	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039704	C>G	Pathogenic	Missense variant, coding sequence variant
rs1064793101	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555715869	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002670	hsa-miR-124-3p	Microarray	15685193
MIRT007139	hsa-miR-130a-3p	qRT-PCR	23418453
MIRT002670	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT002670	hsa-miR-124-3p	Microarray	15685193
MIRT049062	hsa-miR-92a-3p	CLASH	23622248
MIRT040188	hsa-miR-615-3p	CLASH	23622248
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458923	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458922	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458921	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458920	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458919	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458918	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458913	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458909	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	20371350
MIRT458925	hsa-miR-3916	PAR-CLIP	20371350
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT458917	hsa-miR-4459	PAR-CLIP	20371350
MIRT458916	hsa-miR-665	PAR-CLIP	20371350
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	20371350
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	20371350
MIRT458912	hsa-miR-4784	PAR-CLIP	20371350
MIRT458910	hsa-miR-765	PAR-CLIP	20371350
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	20371350
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT458926	hsa-miR-3125	PAR-CLIP	23592263
MIRT458925	hsa-miR-3916	PAR-CLIP	23592263
MIRT458924	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT458923	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT458922	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT458921	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT458920	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT458919	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT458918	hsa-miR-4761-3p	PAR-CLIP	23592263
MIRT458917	hsa-miR-4459	PAR-CLIP	23592263
MIRT458916	hsa-miR-665	PAR-CLIP	23592263
MIRT458915	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT458914	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT458912	hsa-miR-4784	PAR-CLIP	23592263
MIRT458913	hsa-miR-4708-3p	PAR-CLIP	23592263
MIRT458911	hsa-miR-711	PAR-CLIP	23592263
MIRT458910	hsa-miR-765	PAR-CLIP	23592263
MIRT458909	hsa-miR-6809-5p	PAR-CLIP	23592263
MIRT458908	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT942346	hsa-miR-1207-3p	CLIP-seq
MIRT942347	hsa-miR-1285	CLIP-seq
MIRT942348	hsa-miR-3187-5p	CLIP-seq
MIRT942349	hsa-miR-4316	CLIP-seq
MIRT942350	hsa-miR-4523	CLIP-seq
MIRT942351	hsa-miR-4740-3p	CLIP-seq
MIRT942352	hsa-miR-612	CLIP-seq
MIRT942353	hsa-miR-106a	CLIP-seq
MIRT942354	hsa-miR-106b	CLIP-seq
MIRT942355	hsa-miR-125a-5p	CLIP-seq
MIRT942356	hsa-miR-125b	CLIP-seq
MIRT942357	hsa-miR-17	CLIP-seq
MIRT942358	hsa-miR-20a	CLIP-seq
MIRT942359	hsa-miR-20b	CLIP-seq
MIRT942360	hsa-miR-361-3p	CLIP-seq
MIRT942361	hsa-miR-3672	CLIP-seq
MIRT942362	hsa-miR-4319	CLIP-seq
MIRT942363	hsa-miR-4324	CLIP-seq
MIRT942364	hsa-miR-4329	CLIP-seq
MIRT942365	hsa-miR-519d	CLIP-seq
MIRT942366	hsa-miR-520g	CLIP-seq
MIRT942367	hsa-miR-520h	CLIP-seq
MIRT942368	hsa-miR-93	CLIP-seq
MIRT942369	hsa-miR-1202	CLIP-seq
MIRT942346	hsa-miR-1207-3p	CLIP-seq
MIRT942370	hsa-miR-1226	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT942347	hsa-miR-1285	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT942375	hsa-miR-1972	CLIP-seq
MIRT942376	hsa-miR-204	CLIP-seq
MIRT942377	hsa-miR-211	CLIP-seq
MIRT942348	hsa-miR-3187-5p	CLIP-seq
MIRT942378	hsa-miR-3194-5p	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT942381	hsa-miR-3972	CLIP-seq
MIRT942382	hsa-miR-4279	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT942350	hsa-miR-4523	CLIP-seq
MIRT942384	hsa-miR-4530	CLIP-seq
MIRT942385	hsa-miR-4533	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT942387	hsa-miR-4650-5p	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT942390	hsa-miR-4722-3p	CLIP-seq
MIRT942391	hsa-miR-4743	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT942393	hsa-miR-4747-5p	CLIP-seq
MIRT942394	hsa-miR-4755-5p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT942396	hsa-miR-4759	CLIP-seq
MIRT942397	hsa-miR-4763-5p	CLIP-seq
MIRT942398	hsa-miR-503	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT942352	hsa-miR-612	CLIP-seq
MIRT942401	hsa-miR-623	CLIP-seq
MIRT942402	hsa-miR-634	CLIP-seq
MIRT1978989	hsa-miR-124	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT1978990	hsa-miR-1273g	CLIP-seq
MIRT1978991	hsa-miR-127-5p	CLIP-seq
MIRT1978992	hsa-miR-1291	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT1978993	hsa-miR-147	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT1978994	hsa-miR-24	CLIP-seq
MIRT1978995	hsa-miR-296-5p	CLIP-seq
MIRT1978996	hsa-miR-3155	CLIP-seq
MIRT1978997	hsa-miR-3155b	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT1978998	hsa-miR-3911	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT1978999	hsa-miR-3922-5p	CLIP-seq
MIRT1979000	hsa-miR-4258	CLIP-seq
MIRT1979001	hsa-miR-4269	CLIP-seq
MIRT942382	hsa-miR-4279	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT1979003	hsa-miR-4300	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT1979004	hsa-miR-4505	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT1979005	hsa-miR-4640-5p	CLIP-seq
MIRT1979006	hsa-miR-4645-5p	CLIP-seq
MIRT1979007	hsa-miR-4673	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT1979008	hsa-miR-4726-5p	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT1979009	hsa-miR-4755-3p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT1979010	hsa-miR-484	CLIP-seq
MIRT1979011	hsa-miR-485-5p	CLIP-seq
MIRT1979012	hsa-miR-506	CLIP-seq
MIRT1979013	hsa-miR-548an	CLIP-seq
MIRT1979014	hsa-miR-548p	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT1979015	hsa-miR-644	CLIP-seq
MIRT1979016	hsa-miR-889	CLIP-seq
MIRT1979017	hsa-miR-920	CLIP-seq
MIRT942370	hsa-miR-1226	CLIP-seq
MIRT2214147	hsa-miR-1275	CLIP-seq
MIRT2214148	hsa-miR-1538	CLIP-seq
MIRT942376	hsa-miR-204	CLIP-seq
MIRT942377	hsa-miR-211	CLIP-seq
MIRT2214149	hsa-miR-3144-5p	CLIP-seq
MIRT2214150	hsa-miR-337-5p	CLIP-seq
MIRT2214151	hsa-miR-3620	CLIP-seq
MIRT1978999	hsa-miR-3922-5p	CLIP-seq
MIRT1979001	hsa-miR-4269	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT2214152	hsa-miR-4525	CLIP-seq
MIRT942384	hsa-miR-4530	CLIP-seq
MIRT1979005	hsa-miR-4640-5p	CLIP-seq
MIRT2214153	hsa-miR-4665-5p	CLIP-seq
MIRT2214154	hsa-miR-4667-5p	CLIP-seq
MIRT2214155	hsa-miR-4691-3p	CLIP-seq
MIRT2214156	hsa-miR-4700-5p	CLIP-seq
MIRT2214157	hsa-miR-4723-5p	CLIP-seq
MIRT1979008	hsa-miR-4726-5p	CLIP-seq
MIRT2214158	hsa-miR-4745-3p	CLIP-seq
MIRT942393	hsa-miR-4747-5p	CLIP-seq
MIRT1979009	hsa-miR-4755-3p	CLIP-seq
MIRT942394	hsa-miR-4755-5p	CLIP-seq
MIRT942398	hsa-miR-503	CLIP-seq
MIRT942401	hsa-miR-623	CLIP-seq
MIRT2214159	hsa-miR-625	CLIP-seq
MIRT942402	hsa-miR-634	CLIP-seq
MIRT2214160	hsa-miR-637	CLIP-seq
MIRT942371	hsa-miR-1262	CLIP-seq
MIRT942372	hsa-miR-1294	CLIP-seq
MIRT2387041	hsa-miR-1321	CLIP-seq
MIRT942373	hsa-miR-151-5p	CLIP-seq
MIRT942374	hsa-miR-151b	CLIP-seq
MIRT1978995	hsa-miR-296-5p	CLIP-seq
MIRT942379	hsa-miR-3545-5p	CLIP-seq
MIRT2387042	hsa-miR-3612	CLIP-seq
MIRT2387043	hsa-miR-3622b-5p	CLIP-seq
MIRT942380	hsa-miR-3919	CLIP-seq
MIRT2387044	hsa-miR-4270	CLIP-seq
MIRT1979002	hsa-miR-4292	CLIP-seq
MIRT2387045	hsa-miR-4441	CLIP-seq
MIRT942383	hsa-miR-4481	CLIP-seq
MIRT942386	hsa-miR-4632	CLIP-seq
MIRT942388	hsa-miR-4701-3p	CLIP-seq
MIRT942389	hsa-miR-4710	CLIP-seq
MIRT2387046	hsa-miR-4739	CLIP-seq
MIRT942392	hsa-miR-4745-5p	CLIP-seq
MIRT942395	hsa-miR-4756-3p	CLIP-seq
MIRT2387047	hsa-miR-4756-5p	CLIP-seq
MIRT942399	hsa-miR-582-5p	CLIP-seq
MIRT942400	hsa-miR-600	CLIP-seq
MIRT2387048	hsa-miR-650	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	NAS	7590285
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001891	Component	Phagocytic cup	IEA
GO:0001931	Component	Uropod	IDA	18480402
GO:0001931	Component	Uropod	IEA
GO:0002102	Component	Podosome	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	34744632
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	NAS	11583995
GO:0003924	Function	GTPase activity	TAS
GO:0005515	Function	Protein binding	IPI	11583995, 15703209, 16325581, 16551695, 16636290, 16696976, 17257598, 17412836, 17676042, 18353773, 18388313, 18480402, 19380743, 20711168, 21706016, 21900206, 21988832, 22022388, 22623184, 24970086, 27107012, 29437695, 31980649, 32296183, 32315611, 32814053, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	7590285
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	34744632
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	15731758
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA	16227997
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	15048127
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	18388313
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	15731758, 21525035
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005905	Component	Clathrin-coated pit	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	10893263
GO:0006892	Process	Post-Golgi vesicle-mediated transport	TAS
GO:0006897	Process	Endocytosis	IDA	33713620
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	NAS	10101292, 11583995
GO:0006898	Process	Receptor-mediated endocytosis	IDA	15731758, 19623537, 36445308
GO:0006898	Process	Receptor-mediated endocytosis	ISS
GO:0006909	Process	Phagocytosis	IEA
GO:0006914	Process	Autophagy	IDA	32315611
GO:0006914	Process	Autophagy	IMP	29437695
GO:0007098	Process	Centrosome cycle	ISS
GO:0007165	Process	Signal transduction	NAS	10893263
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	NAS	7590285
GO:0012505	Component	Endomembrane system	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016185	Process	Synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017124	Function	SH3 domain binding	IDA	18388313
GO:0019886	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS
GO:0019899	Function	Enzyme binding	NAS	11583995
GO:0030136	Component	Clathrin-coated vesicle	IDA	15731758
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030496	Component	Midbody	IEA
GO:0030516	Process	Regulation of axon extension	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031623	Process	Receptor internalization	IBA
GO:0031623	Process	Receptor internalization	IMP	14985334
GO:0033572	Process	Transferrin transport	IMP	14985334
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043065	Process	Positive regulation of apoptotic process	NAS	10893263
GO:0043149	Process	Stress fiber assembly	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	11583995
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	10893263
GO:0048489	Process	Synaptic vesicle transport	NAS	11583995
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0051258	Process	Protein polymerization	IDA	34744632
GO:0055037	Component	Recycling endosome	IDA	32315611
GO:0055037	Component	Recycling endosome	IEA
GO:0061024	Process	Membrane organization	TAS
GO:0061572	Process	Actin filament bundle organization	IMP	19605363
GO:0061572	Process	Actin filament bundle organization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0097749	Process	Membrane tubulation	IDA	24135484
GO:0097749	Process	Membrane tubulation	ISS
GO:0098793	Component	Presynapse	IEA
GO:0099050	Process	Vesicle scission	IDA	32315611
GO:1903526	Process	Negative regulation of membrane tubulation	IDA	18388313

Other IDs

• MIM: 602378
• HGNC: 2974
• e!Ensembl: ENSG00000079805

Protein

• UniProt ID: P50570
• Protein name: Dynamin-2 (EC 3.6.5.5) (Dynamin 2) (Dynamin II)
• Protein function: Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton (PubMed:15731758, PubMed:19
• PDB: 2YS1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00350	Dynamin_N	34 → 207	Dynamin family	Domain
  PF01031	Dynamin_M	216 → 502	Dynamin central region	Family
  PF00169	PH	520 → 624	PH domain	Domain
  PF02212	GED	648 → 739	Dynamin GTPase effector domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:7590285). Expressed in skeletal muscle and the peripheral nerve (PubMed:19623537). {ECO:0000269|PubMed:19623537, ECO:0000269|PubMed:7590285}.
• Sequence:

  MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRG
  SGIVTRRPLILQLIFSKTEHAEFLHCKSKKFTDFDEVRQEIEAETDRVTGTNKGISPVPI
  NLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
  LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQK
  DIEGKKDIRAALAAERKFFLSHPAYRHMADRMGTPHLQKTLNQQLTNHIRESLPALRSKL
  QSQLLSLEKEVEEYKNFRPDDPTRKTKALLQMVQQFGVDFEKRIEGSGDQVDTLELSGGA
  RINRIFHERFPFELVKMEFDEKDLRREISYAIKNIHGVRTGLFTPDLAFEAIVKKQVVKL
  KEPCLKCVDLVIQELINTVRQCTSKLSSYPRLREETERIVTTYIREREGRTKDQILLLID
  IEQSYINTNHEDFIGFANAQQRSTQLNKKRAIPNQGEILVIRRGWLTINNISLMKGGSKE
  YWFVLTAESLSWYKDEEEKEKKYMLPLDNLKIRDVEKGFMSNKHVFAIFNTEQRNVYKDL
  RQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQENTFSMDPQLERQVETIRNLV
  DSYVAIINKSIRDLMPKTIMHLMINNTKAFIHHELLAYLYSSADQSSLMEESADQAQRRD
  DMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGR
  PPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPP
  GIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

• Sequence length: 870

Pathways

KEGG:

Phospholipase D signaling pathway
Endocytosis
Fc gamma R-mediated phagocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Bacterial invasion of epithelial cells
Salmonella infection

Reactome:

Toll Like Receptor 4 (TLR4) Cascade
Gap junction degradation
Formation of annular gap junctions
NOSTRIN mediated eNOS trafficking
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
Clathrin-mediated endocytosis

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
Abnormality of the musculature	Pathogenic	rs121909091	RCV001813964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant centronuclear myopathy	Pathogenic; Likely pathogenic	rs587783595, rs587783597, rs587783598, rs2513348956, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs2513333606, rs773598203, rs1555715869, rs2073098775	RCV000679888 RCV005252767 RCV002286706 RCV002283935 RCV000007702 RCV000007703 RCV000007704 RCV000007705 RCV000754751 RCV003234958 RCV004787830 RCV001729629 RCV001197418	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Charcot-Marie-Tooth disease type 2M	Likely pathogenic; Pathogenic	rs267606772	RCV000007710	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Centronuclear myopathy	Likely pathogenic; Pathogenic	rs587783594, rs587783595, rs587783596, rs587783597, rs587783598, rs2513348956, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs879254086, rs773598203, rs2073098775, rs2072577342	RCV000145901 RCV000145903 RCV005430500 RCV000145909 RCV000145910 RCV005645372 RCV000145900 RCV000145899 RCV000145902 RCV000145898 RCV000145908 RCV005430516 RCV004732482 RCV004732493 RCV005645243	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs199927590, rs121909090, rs1269225724	RCV000144864 RCV001027496 RCV000789090	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease dominant intermediate B	Likely pathogenic; Pathogenic	rs2146014404, rs587783595, rs587783596, rs587783597, rs587783598, rs2513348956, rs864309705, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909093, rs879254086, rs1064793101, rs773598203, rs1555715869, rs746903992, rs1269225724, rs2073098775, rs2072577342	RCV001379334 RCV000552861 RCV003447117 RCV002515958 RCV003447118 RCV003447331 RCV000203274 RCV000701394 RCV000641108 RCV000641110 RCV000554046 RCV000544279 RCV003447079 RCV000203266 RCV000641104 RCV002518442 RCV002221154 RCV001384482 RCV000534336 RCV000703690 RCV001542797 RCV001227100 RCV001880160	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DNM2-related disorder	Pathogenic	rs121909091, rs121909092	RCV004745149 RCV003914819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia-cerebral and retinal hemorrhage syndrome	Pathogenic	rs121909095	RCV002504764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Limb-girdle muscular dystrophy	Pathogenic	rs121909090	RCV005624680	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya angiopathy	Likely pathogenic	rs2073249488	RCV004704485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Pathogenic	rs121909092	RCV000626717	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorimotor neuropathy	Likely pathogenic; Pathogenic	rs121909093	RCV000415354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe X-linked myotubular myopathy	Pathogenic	rs121909095	RCV000007708 RCV000007709	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Centronuclear Myopathy, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth, Intermediate	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF CLAVICLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF FOREARM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF SCAPULA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DEFORMITY OF WRIST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF ELBOW	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISLOCATION OF GLENOHUMERAL JOINT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Limb-girdle muscle weakness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CENTRONUCLEAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27885263		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	23092955		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	18236001, 19126407		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant centronuclear myopathy	Centronuclear Myopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Charcot-Marie-Tooth disease type 2M	Charcot-Marie-Tooth Disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	BEFREE	17676042		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31289491		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	21221624		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	31296575		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30371505		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24753582	Associate	★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	25492887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27813498, 32573516, 34190023	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31289491		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31289491		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21841817, 31967944	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35662107	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20574164	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24706848		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25492887		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	25492887	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19502294, 19932620		★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	17134899		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	16227997, 16585051, 17008356, 17134899, 17676042, 17825552, 17932957, 19084976, 19130742, 19932619, 19932620, 20181480, 20227276, 20434914, 20858595, 21221624, 21514436, 21762456, 22096584, 22396310, 22496665, 22613877, 22924779, 23092955, 23374900, 23394783, 23609221, 23813975, 23938035, 24016602, 24366529, 24569368, 25260562, 25262827, 25492887, 25501959, 25633151, 26199319, 26517984, 26908122, 28466468, 28589938, 28676641, 28971531, 29130937, 29246969, 29506908, 29670510, 30232666, 30291191, 30601711, 30733559, 30925452, 31017801, 31628461		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG	17376685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Centronuclear Myopathy	GENOMICS_ENGLAND_DG	17932957		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Centronuclear myopathy	Centronuclear Myopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	20574164		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	15731758, 16856148, 17636067, 17825552, 18394888, 18560793, 19502294, 19528294, 19932620, 20817456, 21514436, 21762456, 22091729, 22096584, 22396310, 22496665, 23092955, 23609221, 23813975, 25492887, 26199319, 26517984, 26842864, 28971531, 30426359, 31628461, 31691805		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	17636067, 17825552		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	25025039		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)	Charcot-Marie-Tooth Disease	BEFREE	16585051, 17825552		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	GENOMICS_ENGLAND_DG	15731758, 22396310, 23813975, 25492887		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	UNIPROT_DG	15731758, 17636067, 18560793, 19623537		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	ORPHANET_DG	15731758, 17636067, 18394888		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	CLINVAR_DG	16227997, 17008356, 17932957, 19130742, 19932619, 20227276, 20529869, 20700106, 20817456, 20858595, 20927630, 21221624, 21762456, 22096584, 22369075, 22396310, 22613877, 23338057, 23394783, 24016602, 24135484, 24465259, 25262827, 25492887, 25501959, 25957634, 26199319, 26273216, 26842864, 26908122, 27343996, 28676641		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	BEFREE	26842864		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Charcot-Marie-Tooth Disease	BEFREE	15731758		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15994918		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28794688		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34582006	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	29071728, 30925452		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	17825552		★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	BEFREE	22613877		★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	LHGDN	16227997, 17825552, 17932957		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG	17376685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Structural Myopathy	Congenital Structural Myopathy	BEFREE	17676042, 28589938, 29506908, 30232666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	23410488		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	23394783	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23813975		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	26714855	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23813975		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	24402972		★☆☆☆☆ Found in Text Mining only
Fetal akinesia-cerebral and retinal hemorrhage syndrome	Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosis, Liver	Liver Fibrosis	BEFREE	27840081		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29670510		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	33684277	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	24603425	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21996738, 30907150		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30907150		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21996738		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34831480	Associate	★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23410488		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	26517984, 29670510		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	17636067, 18560793		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24706848	Inhibit	★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	19528294		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	27118408, 28466468		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30874888		★☆☆☆☆ Found in Text Mining only
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	GENOMICS_ENGLAND_DG	15731758, 23092955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	UNIPROT_DG	23092955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	ORPHANET_DG	23092955		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	BEFREE	28971531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LETHAL CONGENITAL CONTRACTURE SYNDROME 5	Lethal Congenital Contracture Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	27885263, 28366933	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28466468		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33351131	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20817456		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11746524		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23394783	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20574164	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24402972	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30371505		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31289491		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24706848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23537630, 30975647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24402972		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31289491		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24706848		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23813975		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28366933		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	17134899, 17636067, 20817456, 24569368, 25262827, 25633151, 28589938, 28971531, 29506908, 30291191, 30733559		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy	Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, Centronuclear, 1	Myopathy	GENOMICS_ENGLAND_DG	15731758, 17932957, 22396310, 23813975, 25492887		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CLINVAR_DG	16227997, 20227276, 20529869, 20858595, 22096584, 26633545		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	UNIPROT_DG	16227997, 17825552, 17932957, 19122038, 19623537, 19932619, 19932620, 20227276, 22396310		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	BEFREE	26908122		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	ORPHANET_DG	16227997		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CLINGEN_DG	16227997, 17932957, 21514436, 26273216, 29246969, 31691805		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	BEFREE	17636067, 17825552, 18394888, 20127478, 20227276, 20817456, 20858595, 21221624, 21514436, 22396310, 22613877, 23394783, 23813975, 26842864, 26908122, 29071728, 29246969, 30426359, 30733559, 31691805		★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	BEFREE	17676042		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	40159620	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15994918, 30371505, 31311812		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24102355		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19126407		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34130600	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	20127478, 22096584, 23609221, 24102355, 28971531, 30426359, 31691805		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32154989	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17636067, 19502294, 20227276, 20817456, 22091729, 22096584, 22496665, 23092955, 23813975, 26199319, 26517984, 26842864, 28466468, 30648534, 31628461		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	20817456		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35186244	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24706848		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24706848	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23537630, 30975647		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23537630		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21841817, 23537630, 31967944	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20127478, 21514436, 22096584, 22396310, 23609221		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	22396310	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20127478, 22096584, 22396310, 23609221		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polyneuropathies	Polyneuropathy	Pubtator	35993408	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27885263		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27118408, 27885263		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24402972		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24402972	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	39684939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	BEFREE	21221624		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 10 autosomal dominant	Spastic paraplegia	Pubtator	26517984	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	26517984		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26517984	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28466468, 29670510		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	37689549	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32827429	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30371505		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG	17376685		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	15545517		★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG	17376685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	19084976, 24569368, 24569376, 30451841, 30451843		★★☆☆☆ Found in Text Mining + Unknown/Other Associations