ANK3 (ankyrin 3)

Gene

• Entrez ID: 288
• Gene name: Ankyrin 3
• Gene symbol: ANK3
• Synonyms (NCBI Gene): ANKYRIN-G, MRT37
• Chromosome: 10
• Chromosome location: 10q21.2
• Summary: Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of spe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34796699	AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant, genic upstream transcript variant
rs140741466	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs144123544	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs184515022	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs370950407	A>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs544357242	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs879255535	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060499742	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1589763169	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590691724	G>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT441234	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441234	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT629131	hsa-miR-503-5p	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT614473	hsa-miR-8485	HITS-CLIP	23824327
MIRT614474	hsa-miR-603	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT611721	hsa-miR-216b-3p	HITS-CLIP	23824327
MIRT611720	hsa-miR-598-5p	HITS-CLIP	23824327
MIRT611719	hsa-miR-8088	HITS-CLIP	23824327
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781668	hsa-miR-10a	CLIP-seq
MIRT781669	hsa-miR-10b	CLIP-seq
MIRT781670	hsa-miR-1323	CLIP-seq
MIRT781671	hsa-miR-140-3p	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT781673	hsa-miR-217	CLIP-seq
MIRT781674	hsa-miR-29a	CLIP-seq
MIRT781675	hsa-miR-29b	CLIP-seq
MIRT781676	hsa-miR-29c	CLIP-seq
MIRT781677	hsa-miR-3120-3p	CLIP-seq
MIRT781678	hsa-miR-3144-3p	CLIP-seq
MIRT781679	hsa-miR-33a	CLIP-seq
MIRT781680	hsa-miR-33b	CLIP-seq
MIRT781681	hsa-miR-3613-5p	CLIP-seq
MIRT781682	hsa-miR-3651	CLIP-seq
MIRT781683	hsa-miR-3660	CLIP-seq
MIRT781684	hsa-miR-3663-3p	CLIP-seq
MIRT781685	hsa-miR-3674	CLIP-seq
MIRT781686	hsa-miR-4509	CLIP-seq
MIRT781687	hsa-miR-4526	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT781690	hsa-miR-4676-5p	CLIP-seq
MIRT781691	hsa-miR-4699-3p	CLIP-seq
MIRT781692	hsa-miR-4712-5p	CLIP-seq
MIRT781693	hsa-miR-4731-3p	CLIP-seq
MIRT781694	hsa-miR-4732-3p	CLIP-seq
MIRT781695	hsa-miR-4744	CLIP-seq
MIRT781696	hsa-miR-4751	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT781698	hsa-miR-4795-3p	CLIP-seq
MIRT781699	hsa-miR-4801	CLIP-seq
MIRT781700	hsa-miR-518a-3p	CLIP-seq
MIRT781701	hsa-miR-518b	CLIP-seq
MIRT781702	hsa-miR-518c	CLIP-seq
MIRT781703	hsa-miR-518d-3p	CLIP-seq
MIRT781704	hsa-miR-518f	CLIP-seq
MIRT781705	hsa-miR-524-3p	CLIP-seq
MIRT781706	hsa-miR-525-3p	CLIP-seq
MIRT781707	hsa-miR-545	CLIP-seq
MIRT781708	hsa-miR-548o	CLIP-seq
MIRT781709	hsa-miR-548p	CLIP-seq
MIRT781710	hsa-miR-556-5p	CLIP-seq
MIRT781711	hsa-miR-561	CLIP-seq
MIRT781712	hsa-miR-568	CLIP-seq
MIRT781713	hsa-miR-575	CLIP-seq
MIRT781714	hsa-miR-578	CLIP-seq
MIRT781715	hsa-miR-583	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT781717	hsa-miR-767-5p	CLIP-seq
MIRT781718	hsa-miR-770-5p	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781719	hsa-miR-103a	CLIP-seq
MIRT781720	hsa-miR-107	CLIP-seq
MIRT781721	hsa-miR-1261	CLIP-seq
MIRT781722	hsa-miR-1301	CLIP-seq
MIRT781671	hsa-miR-140-3p	CLIP-seq
MIRT781723	hsa-miR-142-5p	CLIP-seq
MIRT781724	hsa-miR-182	CLIP-seq
MIRT781725	hsa-miR-27a	CLIP-seq
MIRT781726	hsa-miR-27b	CLIP-seq
MIRT781727	hsa-miR-3065-5p	CLIP-seq
MIRT781728	hsa-miR-3122	CLIP-seq
MIRT781729	hsa-miR-3153	CLIP-seq
MIRT781730	hsa-miR-3158-3p	CLIP-seq
MIRT781731	hsa-miR-3179	CLIP-seq
MIRT781732	hsa-miR-3189-5p	CLIP-seq
MIRT781733	hsa-miR-3192	CLIP-seq
MIRT781734	hsa-miR-3682-5p	CLIP-seq
MIRT781735	hsa-miR-3913-5p	CLIP-seq
MIRT781736	hsa-miR-3943	CLIP-seq
MIRT781737	hsa-miR-4282	CLIP-seq
MIRT781738	hsa-miR-4303	CLIP-seq
MIRT781739	hsa-miR-4314	CLIP-seq
MIRT781740	hsa-miR-4323	CLIP-seq
MIRT781741	hsa-miR-4423-5p	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT781742	hsa-miR-4646-5p	CLIP-seq
MIRT781743	hsa-miR-4661-5p	CLIP-seq
MIRT781744	hsa-miR-4668-5p	CLIP-seq
MIRT781745	hsa-miR-4682	CLIP-seq
MIRT781746	hsa-miR-4714-3p	CLIP-seq
MIRT781696	hsa-miR-4751	CLIP-seq
MIRT781747	hsa-miR-4760-3p	CLIP-seq
MIRT781748	hsa-miR-4769-3p	CLIP-seq
MIRT781749	hsa-miR-5047	CLIP-seq
MIRT781750	hsa-miR-5096	CLIP-seq
MIRT781751	hsa-miR-513a-3p	CLIP-seq
MIRT781752	hsa-miR-513a-5p	CLIP-seq
MIRT781753	hsa-miR-548n	CLIP-seq
MIRT781754	hsa-miR-548t	CLIP-seq
MIRT781711	hsa-miR-561	CLIP-seq
MIRT781715	hsa-miR-583	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT781756	hsa-miR-922	CLIP-seq
MIRT1922567	hsa-miR-1237	CLIP-seq
MIRT1930694	hsa-miR-3618	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT1930695	hsa-miR-485-3p	CLIP-seq
MIRT1930696	hsa-miR-488	CLIP-seq
MIRT1930697	hsa-miR-584	CLIP-seq
MIRT1930698	hsa-miR-616	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT1930699	hsa-miR-934	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT1930700	hsa-miR-4667-3p	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT2171304	hsa-miR-4328	CLIP-seq
MIRT2171305	hsa-miR-4519	CLIP-seq
MIRT1930695	hsa-miR-485-3p	CLIP-seq
MIRT2171306	hsa-miR-135a	CLIP-seq
MIRT2171307	hsa-miR-135b	CLIP-seq
MIRT2171308	hsa-miR-153	CLIP-seq
MIRT781725	hsa-miR-27a	CLIP-seq
MIRT781726	hsa-miR-27b	CLIP-seq
MIRT2171309	hsa-miR-300	CLIP-seq
MIRT2171310	hsa-miR-3117-5p	CLIP-seq
MIRT2171311	hsa-miR-34a	CLIP-seq
MIRT2171312	hsa-miR-34c-5p	CLIP-seq
MIRT2171313	hsa-miR-381	CLIP-seq
MIRT2171314	hsa-miR-409-5p	CLIP-seq
MIRT2171315	hsa-miR-4274	CLIP-seq
MIRT2171304	hsa-miR-4328	CLIP-seq
MIRT2171316	hsa-miR-448	CLIP-seq
MIRT2171317	hsa-miR-449a	CLIP-seq
MIRT2171318	hsa-miR-449b	CLIP-seq
MIRT2171319	hsa-miR-450b-5p	CLIP-seq
MIRT2171305	hsa-miR-4519	CLIP-seq
MIRT781688	hsa-miR-4640-3p	CLIP-seq
MIRT2171320	hsa-miR-4666-3p	CLIP-seq
MIRT1930700	hsa-miR-4667-3p	CLIP-seq
MIRT2171321	hsa-miR-4668-3p	CLIP-seq
MIRT2171322	hsa-miR-4724-5p	CLIP-seq
MIRT781697	hsa-miR-4789-5p	CLIP-seq
MIRT2171323	hsa-miR-4790-3p	CLIP-seq
MIRT2171324	hsa-miR-507	CLIP-seq
MIRT2171325	hsa-miR-509-3p	CLIP-seq
MIRT781752	hsa-miR-513a-5p	CLIP-seq
MIRT2171326	hsa-miR-520d-5p	CLIP-seq
MIRT2171327	hsa-miR-524-5p	CLIP-seq
MIRT2171328	hsa-miR-557	CLIP-seq
MIRT781712	hsa-miR-568	CLIP-seq
MIRT781714	hsa-miR-578	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT2171329	hsa-miR-621	CLIP-seq
MIRT781716	hsa-miR-643	CLIP-seq
MIRT781719	hsa-miR-103a	CLIP-seq
MIRT781720	hsa-miR-107	CLIP-seq
MIRT781722	hsa-miR-1301	CLIP-seq
MIRT781728	hsa-miR-3122	CLIP-seq
MIRT781735	hsa-miR-3913-5p	CLIP-seq
MIRT2443636	hsa-miR-450b-3p	CLIP-seq
MIRT2443637	hsa-miR-498	CLIP-seq
MIRT781749	hsa-miR-5047	CLIP-seq
MIRT781751	hsa-miR-513a-3p	CLIP-seq
MIRT2443638	hsa-miR-769-3p	CLIP-seq
MIRT781756	hsa-miR-922	CLIP-seq
MIRT2443639	hsa-miR-944	CLIP-seq
MIRT781667	hsa-miR-101	CLIP-seq
MIRT1922567	hsa-miR-1237	CLIP-seq
MIRT781672	hsa-miR-144	CLIP-seq
MIRT2474298	hsa-miR-1827	CLIP-seq
MIRT2474299	hsa-miR-2053	CLIP-seq
MIRT2474300	hsa-miR-2682	CLIP-seq
MIRT2171310	hsa-miR-3117-5p	CLIP-seq
MIRT2474301	hsa-miR-3167	CLIP-seq
MIRT2171311	hsa-miR-34a	CLIP-seq
MIRT2171312	hsa-miR-34c-5p	CLIP-seq
MIRT781681	hsa-miR-3613-5p	CLIP-seq
MIRT1930694	hsa-miR-3618	CLIP-seq
MIRT781682	hsa-miR-3651	CLIP-seq
MIRT781685	hsa-miR-3674	CLIP-seq
MIRT2474302	hsa-miR-3935	CLIP-seq
MIRT2171314	hsa-miR-409-5p	CLIP-seq
MIRT2474303	hsa-miR-4263	CLIP-seq
MIRT2171317	hsa-miR-449a	CLIP-seq
MIRT2171318	hsa-miR-449b	CLIP-seq
MIRT2474304	hsa-miR-449c	CLIP-seq
MIRT2171319	hsa-miR-450b-5p	CLIP-seq
MIRT2474305	hsa-miR-4521	CLIP-seq
MIRT781689	hsa-miR-4645-3p	CLIP-seq
MIRT2474306	hsa-miR-4652-3p	CLIP-seq
MIRT781743	hsa-miR-4661-5p	CLIP-seq
MIRT781690	hsa-miR-4676-5p	CLIP-seq
MIRT781692	hsa-miR-4712-5p	CLIP-seq
MIRT2171322	hsa-miR-4724-5p	CLIP-seq
MIRT781693	hsa-miR-4731-3p	CLIP-seq
MIRT2474307	hsa-miR-4766-5p	CLIP-seq
MIRT781748	hsa-miR-4769-3p	CLIP-seq
MIRT2474308	hsa-miR-4775	CLIP-seq
MIRT2474309	hsa-miR-4778-5p	CLIP-seq
MIRT2474310	hsa-miR-4786-5p	CLIP-seq
MIRT2171323	hsa-miR-4790-3p	CLIP-seq
MIRT781699	hsa-miR-4801	CLIP-seq
MIRT1930696	hsa-miR-488	CLIP-seq
MIRT2171325	hsa-miR-509-3p	CLIP-seq
MIRT2171326	hsa-miR-520d-5p	CLIP-seq
MIRT781705	hsa-miR-524-3p	CLIP-seq
MIRT2171327	hsa-miR-524-5p	CLIP-seq
MIRT781706	hsa-miR-525-3p	CLIP-seq
MIRT781713	hsa-miR-575	CLIP-seq
MIRT2474311	hsa-miR-586	CLIP-seq
MIRT2474312	hsa-miR-590-3p	CLIP-seq
MIRT781755	hsa-miR-599	CLIP-seq
MIRT2474313	hsa-miR-769-5p	CLIP-seq
MIRT781718	hsa-miR-770-5p	CLIP-seq
MIRT2474314	hsa-miR-876-5p	CLIP-seq
MIRT1930699	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	14757759, 17620337
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	17620337
GO:0005515	Function	Protein binding	IPI	15231748, 15611082, 19934039, 20195357, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8666667
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	TAS	8666667
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005923	Component	Bicellular tight junction	IDA	14757759
GO:0007009	Process	Plasma membrane organization	IMP	17620337
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007409	Process	Axonogenesis	ISS
GO:0007528	Process	Neuromuscular junction development	ISS
GO:0008092	Function	Cytoskeletal protein binding	ISS	21223964
GO:0008093	Function	Cytoskeletal anchor activity	IBA
GO:0009925	Component	Basal plasma membrane	IDA	21223964
GO:0009986	Component	Cell surface	ISS	21223964
GO:0010628	Process	Positive regulation of gene expression	ISS	18180363
GO:0010650	Process	Positive regulation of cell communication by electrical coupling	ISS
GO:0010765	Process	Positive regulation of sodium ion transport	ISS	18180363
GO:0010960	Process	Magnesium ion homeostasis	ISS
GO:0014704	Component	Intercalated disc	ISS
GO:0014731	Component	Spectrin-associated cytoskeleton	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15611082
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	14757759
GO:0016529	Component	Sarcoplasmic reticulum	ISS
GO:0017080	Function	Sodium channel regulator activity	ISS
GO:0019228	Process	Neuronal action potential	ISS
GO:0030018	Component	Z disc	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030507	Function	Spectrin binding	IBA
GO:0030507	Function	Spectrin binding	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031594	Component	Neuromuscular junction	ISS
GO:0033268	Component	Node of Ranvier	ISS
GO:0034112	Process	Positive regulation of homotypic cell-cell adhesion	ISS
GO:0042383	Component	Sarcolemma	IDA	21223964
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	17620337
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	ISS
GO:0043034	Component	Costamere	TAS	21223964
GO:0043194	Component	Axon initial segment	IDA	27356871
GO:0043194	Component	Axon initial segment	ISS
GO:0043226	Component	Organelle	IEA
GO:0043266	Process	Regulation of potassium ion transport	ISS
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045184	Process	Establishment of protein localization	IMP	15611082
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045296	Function	Cadherin binding	ISS
GO:0045838	Process	Positive regulation of membrane potential	ISS	18180363
GO:0048193	Process	Golgi vesicle transport	IEA
GO:0071286	Process	Cellular response to magnesium ion	ISS
GO:0071709	Process	Membrane assembly	IMP	14757759, 17620337
GO:0071709	Process	Membrane assembly	ISS
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IGI	18180363
GO:0072659	Process	Protein localization to plasma membrane	IMP	14757759, 17620337
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0072660	Process	Maintenance of protein location in plasma membrane	IGI	17620337
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:0099103	Function	Channel activator activity	ISS
GO:0099612	Process	Protein localization to axon	ISS
GO:1900827	Process	Positive regulation of membrane depolarization during cardiac muscle cell action potential	ISS	18180363
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	ISS

Other IDs

• MIM: 600465
• HGNC: 494
• e!Ensembl: ENSG00000151150

Protein

• UniProt ID: Q12955
• Protein name: Ankyrin-3 (ANK-3) (Ankyrin-G)
• Protein function: Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (PubMed:7836469). In skeletal muscle, required for costamere localization
• PDB: 4O6X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	46 → 137	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	129 → 202	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	197 → 267	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	258 → 331	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	324 → 397	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	367 → 420		Repeat
  PF12796	Ank_2	395 → 463	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	461 → 529	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	503 → 594	Ankyrin repeats (3 copies)	Repeat
  PF13857	Ank_5	551 → 605		Repeat
  PF12796	Ank_2	569 → 661	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	668 → 760	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	730 → 783		Repeat
  PF00791	ZU5	985 → 1083	ZU5 domain	Family
  PF17809	UPA_2	1308 → 1438	UPA domain	Domain
  PF00531	Death	4091 → 4174	Death domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, neurons, muscles and other tissues. {ECO:0000269|PubMed:21223964, ECO:0000269|PubMed:7836469}.
• Sequence:

  MAHAASQLKKNRDLEINAEEEPEKKRKHRKRSRDRKKKSDANASYLRAARAGHLEKALDY
  IKNGVDINICNQNGLNALHLASKEGHVEVVSELLQREANVDAATKKGNTALHIASLAGQA
  EVVKVLVTNGANVNAQSQNGFTPLYMAAQENHLEVVKFLLDNGASQSLATEDGFTPLAVA
  LQQGHDQVVSLLLENDTKGKVRLPALHIAARKDDTKAAALLLQNDNNADVESKSGFTPLH
  IAAHYGNINVATLLLNRAAAVDFTARNDITPLHVASKRGNANMVKLLLDRGAKIDAKTRD
  GLTPLHCGARSGHEQVVEMLLDRAAPILSKTKNGLSPLHMATQGDHLNCVQLLLQHNVPV
  DDVTNDYLTALHVAAHCGHYKVAKVLLDKKANPNAKALNGFTPLHIACKKNRIKVMELLL
  KHGASIQAVTESGLTPIHVAAFMGHVNIVSQLMHHGASPNTTNVRGETALHMAARSGQAE
  VVRYLVQDGAQVEAKAKDDQTPLHISARLGKADIVQQLLQQGASPNAATTSGYTPLHLSA
  REGHEDVAAFLLDHGASLSITTKKGFTPLHVAAKYGKLEVANLLLQKSASPDAAGKSGLT
  PLHVAAHYDNQKVALLLLDQGASPHAAAKNGYTPLHIAAKKNQMDIATTLLEYGADANAV
  TRQGIASVHLAAQEGHVDMVSLLLGRNANVNLSNKSGLTPLHLAAQEDRVNVAEVLVNQG
  AHVDAQTKMGYTPLHVGCHYGNIKIVNFLLQHSAKVNAKTKNGYTPLHQAAQQGHTHIIN
  VLLQNNASPNELTVNGNTALGIARRLGYISVVDTLKIVTEETMTTTTVTEKHKMNVPETM
  NEVLDMSDDEVRKANAPEMLSDGEYISDVEEGEDAMTGDTDKYLGPQDLKELGDDSLPAE
  GYMGFSLGARSASLRSFSSDRSYTLNRSSYARDSMMIEELLVPSKEQHLTFTREFDSDSL
  RHYSWAADTLDNVNLVSSPIHSGFLVSFMVDARGGSMRGSRHHGMRIIIPPRKCTAPTRI
  TCRLVKRHKLANPPPMVEGEGLASRLVEMGPAGAQFLGPVIVEIPHFGSMRGKERELIVL
  RSENGETWKEHQFDSKNEDLTELLNGMDEELDSPEELGKKRICRIITKDFPQYFAVVSRI
  KQESNQIGPEGGILSSTTVPLVQASFPEGALTKRIRVGLQAQPVPDEIVKKILGNKATFS
  PIVTVEPRRRKFHKPITMTIPVPPPSGEGVSNGYKGDTTPNLRLLCSITGGTSPAQWEDI
  TGTTPLTFIKDCVSFTTNVSARFWLADCHQVLETVGLATQLYRELICVPYMAKFVVFAKM
  NDPVESSLRCFCMTDDKVDKTLEQQENFEEVARSKDIEVLEGKPIYVDCYGNLAPLTKGG
  QQLVFNFYSFKENRLPFSIKIRDTSQEPCGRLSFLKEPKTTKGLPQTAVCNLNITLPAHK
  KETESDQDDEIEKTDRRQSFASLALRKRYSYLTEPGMIERSTGATRSLPTTYSYKPFFST
  RPYQSWTTAPITVPGPAKSGFTSLSSSSSNTPSASPLKSIWSVSTPSPIKSTLGASTTSS
  VKSISDVASPIRSFRTMSSPIKTVVSQSPYNIQVSSGTLARAPAVTEATPLKGLASNSTF
  SSRTSPVTTAGSLLERSSITMTPPASPKSNINMYSSSLPFKSIITSAAPLISSPLKSVVS
  PVKSAVDVISSAKITMASSLSSPVKQMPGHAEVALVNGSISPLKYPSSSTLINGCKATAT
  LQEKISSATNSVSSVVSAATDTVEKVFSTTTAMPFSPLRSYVSAAPSAFQSLRTPSASAL
  YTSLGSSISATTSSVTSSIITVPVYSVVNVLPEPALKKLPDSNSFTKSAAALLSPIKTLT
  TETHPQPHFSRTSSPVKSSLFLAPSALKLSTPSSLSSSQEILKDVAEMKEDLMRMTAILQ
  TDVPEEKPFQPELPKEGRIDDEEPFKIVEKVKEDLVKVSEILKKDVCVDNKGSPKSPKSD
  KGHSPEDDWIEFSSEEIREARQQAAASQSPSLPERVQVKAKAASEKDYNLTKVIDYLTND
  IGSSSLTNLKYKFEDAKKDGEERQKRVLKPAIALQEHKLKMPPASMRTSTSEKELCKMAD
  SFFGTDTILESPDDFSQHDQDKSPLSDSGFETRSEKTPSAPQSAESTGPKPLFHEVPIPP
  VITETRTEVVHVIRSYDPSAGDVPQTQPEEPVSPKPSPTFMELEPKPTTSSIKEKVKAFQ
  MKASSEEDDHNRVLSKGMRVKEETHITTTTRMVYHSPPGGEGASERIEETMSVHDIMKAF
  QSGRDPSKELAGLFEHKSAVSPDVHKSAAETSAQHAEKDNQMKPKLERIIEVHIEKGNQA
  EPTEVIIRETKKHPEKEMYVYQKDLSRGDINLKDFLPEKHDAFPCSEEQGQQEEEELTAE
  ESLPSYLESSRVNTPVSQEEDSRPSSAQLISDDSYKTLKLLSQHSIEYHDDELSELRGES
  YRFAEKMLLSEKLDVSHSDTEESVTDHAGPPSSELQGSDKRSREKIATAPKKEILSKIYK
  DVSENGVGKVSKDEHFDKVTVLHYSGNVSSPKHAMWMRFTEDRLDRGREKLIYEDRVDRT
  VKEAEEKLTEVSQFFRDKTEKLNDELQSPEKKARPKNGKEYSSQSPTSSSPEKVLLTELL
  ASNDEWVKARQHGPDGQGFPKAEEKAPSLPSSPEKMVLSQQTEDSKSTVEAKGSISQSKA
  PDGPQSGFQLKQSKLSSIRLKFEQGTHAKSKDMSQEDRKSDGQSRIPVKKIQESKLPVYQ
  VFAREKQQKAIDLPDESVSVQKDFMVLKTKDEHAQSNEIVVNDSGSDNVKKQRTEMSSKA
  MPDSFSEQQAKDLACHITSDLATRGPWDKKVFRTWESSGATNNKSQKEKLSHVLVHDVRE
  NHIGHPESKSVDQKNEFMSVTERERKLLTNGSLSEIKEMTVKSPSKKVLYREYVVKEGDH
  PGGLLDQPSRRSESSAVSHIPVRVADERRMLSSNIPDGFCEQSAFPKHELSQKLSQSSMS
  KETVETQHFNSIEDEKVTYSEISKVSKHQSYVGLCPPLEETETSPTKSPDSLEFSPGKES
  PSSDVFDHSPIDGLEKLAPLAQTEGGKEIKTLPVYVSFVQVGKQYEKEIQQGGVKKIISQ
  ECKTVQETRGTFYTTRQQKQPPSPQGSPEDDTLEQVSFLDSSGKSPLTPETPSSEEVSYE
  FTSKTPDSLIAYIPGKPSPIPEVSEESEEEEQAKSTSLKQTTVEETAVEREMPNDVSKDS
  NQRPKNNRVAYIEFPPPPPLDADQIESDKKHHYLPEKEVDMIEVNLQDEHDKYQLAEPVI
  RVQPPSPVPPGADVSDSSDDESIYQPVPVKKYTFKLKEVDDEQKEKPKASAEKASNQKEL
  ESNGSGKDNEFGLGLDSPQNEIAQNGNNDQSITECSIATTAEFSHDTDATEIDSLDGYDL
  QDEDDGLTESDSKLPIQAMEIKKDIWNTEGILKPADRSFSQSKLEVIEEEGKVGPDEDKP
  PSKSSSSEKTPDKTDQKSGAQFFTLEGRHPDRSVFPDTYFSYKVDEEFATPFKTVATKGL
  DFDPWSNNRGDDEVFDSKSREDETKPFGLAVEDRSPATTPDTTPARTPTDESTPTSEPNP
  FPFHEGKMFEMTRSGAIDMSKRDFVEERLQFFQIGEHTSEGKSGDQGEGDKSMVTATPQP
  QSGDTTVETNLERNVETPTVEPNPSIPTSGECQEGTSSSGSLEKSAAATNTSKVDPKLRT
  PIKMGISASTMTMKKEGPGEITDKIEAVMTSCQGLENETITMISNTANSQMGVRPHEKHD
  FQKDNFNNNNNLDSSTIQTDNIMSNIVLTEHSAPTCTTEKDNPVKVSSGKKTGVLQGHCV
  RDKQKVLGEQQKTKELIGIRQKSKLPIKATSPKDTFPPNHMSNTKASKMKQVSQSEKTKA
  LTTSSCVDVKSRIPVKNTHRDNIIAVRKACATQKQGQPEKGKAKQLPSKLPVKVRSTCVT
  TTTTTATTTTTTTTTTTTSCTVKVRKSQLKEVCKHSIEYFKGISGETLKLVDRLSEEEKK
  MQSELSDEEESTSRNTSLSETSRGGQPSVTTKSARDKKTEAAPLKSKSEKAGSEKRSSRR
  TGPQSPCERTDIRMAIVADHLGLSWTELARELNFSVDEINQIRVENPNSLISQSFMLLKK
  WVTRDGKNATTDALTSVLTKINRIDIVTLLEGPIFDYGNISGTRSFADENNVFHDPVDGW
  QNETSSGNLESCAQARRVTGGLLDRLDDSPDQCRDSITSYLKGEAGKFEANGSHTEITPE
  AKTKSYFPESQNDVGKQSTKETLKPKIHGSGHVEEPASPLAAYQKSLEETSKLIIEETKP
  CVPVSMKKMSRTSPADGKPRLSLHEEEGSSGSEQKQGEGFKVKTKKEIRHVEKKSHS

• Sequence length: 4377

Pathways

KEGG:

Cytoskeleton in muscle cells
Proteoglycans in cancer

Reactome:

Interaction between L1 and Ankyrins
COPI-mediated anterograde transport

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
Abnormal brain morphology	Likely pathogenic	rs1060499742	RCV000454308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic	rs2132085924	RCV001814346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANK3-related disorder	Pathogenic	rs2131982810	RCV003234115	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Classic medulloblastoma	Pathogenic	rs2492555276	RCV003232623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome	Likely pathogenic; Pathogenic	rs1234025820, rs2132649260, rs1590691724, rs2084966849, rs2082373823, rs879255535	RCV001358746 RCV003128287 RCV000988366 RCV005401730 RCV001175255 RCV000074342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHEDONIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANK3-related neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
https://www.omim.org/entry/615493	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability, autosomal recessive 66	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaloid facial appearance syndrome	Acromegaloid facial appearance syndrome	Pubtator	32911427	Associate	★☆☆☆☆ Found in Text Mining only
Acute transient psychotic disorder	Transient Psychotic Disorder	GWASCAT_DG	31553412		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30584014	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	18163421		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	24529757		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	21676128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhedonia	Anhedonia	PSYGENET_DG	21676128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANK3-related intellectual disability-sleep disturbance syndrome	Intellectual Disability-Sleep Disturbance Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	28803425	Associate	★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	23796624		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	23796624	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	21676128, 28272115, 28411148		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	32801349	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	21676128, 28272115, 28411148		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30941650		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22498896	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	34218362, 37263801	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22865819, 28411148, 28687526		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22521361, 22865819		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18711365, 19088739, 19329560, 19358880, 19488044, 20185149, 21037240, 21304963, 21305692, 21395576, 21438140, 21676128, 21702894, 21767209, 21837483, 21866111, 21972176, 22079454, 22328486, 22498896, 22647524, 22850628, 22865819, 22892719, 23109352, 24108394, 24461634, 24655771, 24716743, 24809399, 24914473, 25304227, 25311363, 25623948, 25711502, 25858580, 26227746, 26682468, 27177275, 27240527, 27488254, 27956739, 28079488, 28109561, 28648753, 29068871, 29684488, 30297702, 30504823, 31813652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	LHGDN	18711365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	18711365, 20351715, 21926972, 22182935, 23453885, 24618891, 28072414, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	18711365, 21926974, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	18711365, 21926972, 22182935, 23637625, 24618891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	18711365, 19088739, 19329560, 19488044, 20185149, 21304963, 21305692, 21702894, 22498896, 22850628, 22892719, 23796624, 24016415, 24461634, 24716743, 25304227, 25311363, 25623948, 25711502, 25897833, 27240527, 27488254, 28199072, 29684488, 30297702, 32438891, 33729739, 35091539, 37620394	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	24016415, 24655771, 24809399, 25304227, 25711502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	21767209, 21946175, 22647524, 24914473, 25041603		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	27488254		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32911427	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30941650		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	21767209, 21946175, 22647524, 24914473, 25041603		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37065178	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	27449795	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	27488254		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31372216	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23390136		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24016415, 37263801	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28803425	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	21395576		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	18711365, 21926974, 31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	32911427, 37620394, 38012695	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32911427	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30559312, 34218362	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	23291369		★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	37263801	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	38035073	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23390136, 24016415		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26055424, 28687526		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	30584014	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Language Development Disorders	Language development disorders	Pubtator	37263801	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	37263801	Associate	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	30584014	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	21702894	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	21702894		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASDB_DG	20351715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	20351715, 23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	21676128, 22647524, 28989100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30941650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27534968		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	18711365, 21926974, 31043756		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	18711365, 21926974, 31043756		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	23390136, 25552561, 27824361, 30046097		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	Mental retardation	ORPHANET_DG	23390136		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	Mental retardation	GENOMICS_ENGLAND_DG	23390136		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	Mental retardation	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	21395576		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	21276201, 24944871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	24944871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	24944871	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	7665168		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30584014	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22521361, 23390136, 28411148, 31813652		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	LHGDN	11950515, 12507143		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	24016415, 24461634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	24016415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	27488254	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	28687526		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	23796624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progeria	Progeria	LHGDN	17033732		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	CTD_human_DG	27217151		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	24016415, 24461634, 24809399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	24016415, 24809399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	24016415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22986903	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19329560, 19521722, 20185149, 21676128, 21702894, 21767209, 21893642, 21972176, 22865819, 23109352, 23796624, 24016415, 24361380, 24461634, 24809399, 24914473, 25858580, 26227746, 26682468, 27811378, 28411148, 30297702, 30312963		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	20185149, 21926974, 23796624, 24016415, 24461634, 25539505, 25897833, 27811378, 30297702	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974, 22688191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	22688191, 23453885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24016415, 24361380, 24809399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea Obstructive	Sleep apnea	Pubtator	34529670	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	19306853		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	19306853		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	21676128, 21702894, 22647524, 28989100		★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE ID	Usher Syndrome	BEFREE	9653653		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	33324992	Associate	★☆☆☆☆ Found in Text Mining only