CAMK4 (calcium/calmodulin dependent protein kinase IV)

Gene

• Entrez ID: 814
• Gene name: Calcium/calmodulin dependent protein kinase IV
• Gene symbol: CAMK4
• Synonyms (NCBI Gene): CaMK IV, CaMK-GR, CaMKIV, caMK
• Chromosome: 5
• Chromosome location: 5q22.1
• Summary: The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1561515242	G>A	Uncertain-significance, likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024679	hsa-miR-215-5p	Microarray	19074876
MIRT026869	hsa-miR-192-5p	Microarray	19074876
MIRT030257	hsa-miR-26b-5p	Microarray	19088304
MIRT437481	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR, Western blot	24014023
MIRT719226	hsa-miR-5197-3p	HITS-CLIP	19536157
MIRT719225	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT719224	hsa-miR-4301	HITS-CLIP	19536157
MIRT719223	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT719222	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT719221	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT719220	hsa-miR-1253	HITS-CLIP	19536157
MIRT719219	hsa-miR-6770-5p	HITS-CLIP	19536157
MIRT719218	hsa-miR-3605-5p	HITS-CLIP	19536157
MIRT719217	hsa-miR-1255a	HITS-CLIP	19536157
MIRT719216	hsa-miR-1255b-5p	HITS-CLIP	19536157
MIRT719215	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT719214	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT719213	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT719212	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	20371350
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT460334	hsa-miR-3128	PAR-CLIP	20371350
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	20371350
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	22012620
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	22012620
MIRT460334	hsa-miR-3128	PAR-CLIP	22012620
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	22012620
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	22012620
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT496934	hsa-miR-1245b-3p	PAR-CLIP	22291592
MIRT496933	hsa-miR-922	PAR-CLIP	22291592
MIRT496932	hsa-miR-6807-5p	PAR-CLIP	22291592
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	23592263
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	23592263
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	23592263
MIRT460334	hsa-miR-3128	PAR-CLIP	23592263
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	23592263
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	23592263
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	23592263
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	23592263
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460334	hsa-miR-3128	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	26701625
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	27292025
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	27292025
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	27292025
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	27292025
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	27292025
MIRT460334	hsa-miR-3128	PAR-CLIP	27292025
MIRT460334	hsa-miR-3128	PAR-CLIP	27292025
MIRT460334	hsa-miR-3128	PAR-CLIP	27292025
MIRT460334	hsa-miR-3128	PAR-CLIP	27292025
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	27292025
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	27292025
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	27292025
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	27292025
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	27292025
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	27292025
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	27292025
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	27292025
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	27292025
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	27292025
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	27418678
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	27418678
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	27418678
MIRT628364	hsa-miR-4455	HITS-CLIP	27418678
MIRT628364	hsa-miR-4455	HITS-CLIP	27418678
MIRT628363	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT628363	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT628369	hsa-miR-622	HITS-CLIP	27418678
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT719226	hsa-miR-5197-3p	HITS-CLIP	19536157
MIRT719225	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT719224	hsa-miR-4301	HITS-CLIP	19536157
MIRT719223	hsa-miR-150-5p	HITS-CLIP	19536157
MIRT719222	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT719221	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT719220	hsa-miR-1253	HITS-CLIP	19536157
MIRT719219	hsa-miR-6770-5p	HITS-CLIP	19536157
MIRT719218	hsa-miR-3605-5p	HITS-CLIP	19536157
MIRT719217	hsa-miR-1255a	HITS-CLIP	19536157
MIRT719216	hsa-miR-1255b-5p	HITS-CLIP	19536157
MIRT719215	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT719214	hsa-miR-4713-5p	HITS-CLIP	19536157
MIRT719213	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT719212	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT628369	hsa-miR-622	HITS-CLIP	23824327
MIRT628368	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628367	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT628366	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT628365	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT628364	hsa-miR-4455	HITS-CLIP	23824327
MIRT628363	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	20371350
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT460334	hsa-miR-3128	PAR-CLIP	20371350
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	20371350
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	20371350
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	22012620
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	22012620
MIRT460334	hsa-miR-3128	PAR-CLIP	22012620
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	22012620
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	22012620
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT496934	hsa-miR-1245b-3p	PAR-CLIP	22291592
MIRT496933	hsa-miR-922	PAR-CLIP	22291592
MIRT496932	hsa-miR-6807-5p	PAR-CLIP	22291592
MIRT460337	hsa-miR-181a-2-3p	PAR-CLIP	23592263
MIRT460336	hsa-miR-1273g-3p	PAR-CLIP	23592263
MIRT460335	hsa-miR-4746-5p	PAR-CLIP	23592263
MIRT460334	hsa-miR-3128	PAR-CLIP	23592263
MIRT460333	hsa-miR-196a-3p	PAR-CLIP	23592263
MIRT460332	hsa-miR-6509-3p	PAR-CLIP	23592263
MIRT460331	hsa-miR-4691-5p	PAR-CLIP	23592263
MIRT460330	hsa-miR-6792-3p	PAR-CLIP	23592263
MIRT860404	hsa-miR-1252	CLIP-seq
MIRT860405	hsa-miR-2115	CLIP-seq
MIRT860406	hsa-miR-3180-5p	CLIP-seq
MIRT860407	hsa-miR-3185	CLIP-seq
MIRT860408	hsa-miR-3611	CLIP-seq
MIRT860409	hsa-miR-4312	CLIP-seq
MIRT860410	hsa-miR-4477b	CLIP-seq
MIRT860411	hsa-miR-520a-5p	CLIP-seq
MIRT860412	hsa-miR-525-5p	CLIP-seq
MIRT1955331	hsa-miR-607	CLIP-seq
MIRT2193077	hsa-miR-34b	CLIP-seq
MIRT2193078	hsa-miR-34c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002735	Process	Positive regulation of myeloid dendritic cell cytokine production	IMP	17909078
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IBA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IDA	8107230
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IEA
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006468	Process	Protein phosphorylation	TAS	8089075
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	TAS	8089075
GO:0007616	Process	Long-term memory	IGI	18829949
GO:0009931	Function	Calcium-dependent protein serine/threonine kinase activity	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	TAS	18930438
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0043011	Process	Myeloid dendritic cell differentiation	IMP	17909078
GO:0045670	Process	Regulation of osteoclast differentiation	TAS	18930438
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	8855261
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 114080
• HGNC: 1464
• e!Ensembl: ENSG00000152495

Protein

• UniProt ID: Q16566
• Protein name: Calcium/calmodulin-dependent protein kinase type IV (CaMK IV) (EC 2.7.11.17) (CaM kinase-GR)
• Protein function: Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK4 signaling cascade and regulates, mainly by phosphorylation, the activity of several transcription activators, such as CREB1, MEF2D, JUN and RORA, whic
• PDB: 2W4O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	46 → 300	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, thymus, CD4 T-cells, testis and epithelial ovarian cancer tissue. {ECO:0000269|PubMed:12065094, ECO:0000269|PubMed:7961813, ECO:0000269|PubMed:8397199}.
• Sequence:

  MLKVTVPSCSASSCSSVTASAAPGTASLVPDYWIDGSNRDALSDFFEVESELGRGATSIV
  YRCKQKGTQKPYALKVLKKTVDKKIVRTEIGVLLRLSHPNIIKLKEIFETPTEISLVLEL
  VTGGELFDRIVEKGYYSERDAADAVKQILEAVAYLHENGIVHRDLKPENLLYATPAPDAP
  LKIADFGLSKIVEHQVLMKTVCGTPGYCAPEILRGCAYGPEVDMWSVGIITYILLCGFEP
  FYDERGDQFMFRRILNCEYYFISPWWDEVSLNAKDLVRKLIVLDPKKRLTTFQALQHPWV
  TGKAANFVHMDTAQKKLQEFNARRKLKAAVKAVVASSRLGSASSSHGSIQESHKASRDPS
  PIQDGNEDMKAIPEGEKIQGDGAQAAVKGAQAELMKVQALEKVKGADINAEEAPKMVPKA
  VEDGIKVADLELEEGLAEEKLKTVEEAAAPREGQGSSAVGFEVPQQDVILPEY

• Sequence length: 473

Pathways

KEGG:

Calcium signaling pathway
cAMP signaling pathway
Longevity regulating pathway
Apelin signaling pathway
Osteoclast differentiation
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Oxytocin signaling pathway
Aldosterone synthesis and secretion
Amphetamine addiction
Alcoholism
Glioma

Reactome:

CaMK IV-mediated phosphorylation of CREB
CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde

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
Intellectual disability	Pathogenic	rs1561515242	RCV000680276	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Involuntary movements	Pathogenic	rs1561515242	RCV000680276	★★★★☆ 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
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31397354		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25063475		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30893695		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24442360, 31743624		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30262571	Associate	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20954187, 24667640, 29252071, 30113881, 30333818		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28547530		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30113881		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35958279	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	20954187		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	30262571	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12525874		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27840934, 31474408, 31490757		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	21784978		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29985166, 30333818		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	18249060	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	30262571	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26909912	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26909912		★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	24793904		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	28547530		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30113881		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30262571	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	29985166		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25446257		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25446257	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25446257	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25446257		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	22942433, 24667640, 29985166		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	22942433, 24667640, 29985166		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	15841182		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20954187, 22942433, 24667640, 26636664, 29252071, 29985166, 30462889		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26636664, 29985166, 30540578, 30672908		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	22942433, 24667640, 29985166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	25847065		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27809417, 27956097, 28744811, 30044185		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31624237		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	20954187, 30333818		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19633294	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28744811, 31021496		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32724490	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27809417, 27956097, 28744811, 30044185		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	12065094		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38035067	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30113881		★☆☆☆☆ Found in Text Mining only