CAMK2A (calcium/calmodulin dependent protein kinase II alpha)

Gene

• Entrez ID: 815
• Gene name: Calcium/calmodulin dependent protein kinase II alpha
• Gene symbol: CAMK2A
• Synonyms (NCBI Gene): CAMKA, CaMKIINalpha, CaMKIIalpha, MRD53, MRT63
• Chromosome: 5
• Chromosome location: 5q32
• Summary: The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113331868	C>A,T	Pathogenic	Splice donor variant
rs864309606	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs926027867	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1287121256	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1554119274	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554121872	T>G	Pathogenic	Coding sequence variant, missense variant
rs1554121875	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554121878	C>T	Pathogenic	Splice acceptor variant
rs1554122123	->A	Likely-pathogenic	Splice donor variant
rs1554122129	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554122526	A>G	Pathogenic	Coding sequence variant, missense variant
rs1554123982	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1562164380	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1580966945	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT529406	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529405	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529404	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT457398	hsa-miR-4688	PAR-CLIP	23592263
MIRT457397	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT457396	hsa-miR-4534	PAR-CLIP	23592263
MIRT457395	hsa-miR-8082	PAR-CLIP	23592263
MIRT457394	hsa-miR-3665	PAR-CLIP	23592263
MIRT457393	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT457392	hsa-miR-4736	PAR-CLIP	23592263
MIRT457391	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT457390	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457389	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT457388	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT457387	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT457386	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457385	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT457384	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT457383	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT457382	hsa-miR-5698	PAR-CLIP	23592263
MIRT457381	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT457379	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT457380	hsa-miR-4525	PAR-CLIP	23592263
MIRT457378	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT457377	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT457376	hsa-miR-4447	PAR-CLIP	23592263
MIRT457375	hsa-miR-4472	PAR-CLIP	23592263
MIRT457374	hsa-miR-1275	PAR-CLIP	23592263
MIRT457373	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT736819	hsa-miR-146a-3p	qRT-PCR	31555879
MIRT529406	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529405	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529404	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT457398	hsa-miR-4688	PAR-CLIP	23592263
MIRT457397	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT457396	hsa-miR-4534	PAR-CLIP	23592263
MIRT457395	hsa-miR-8082	PAR-CLIP	23592263
MIRT457394	hsa-miR-3665	PAR-CLIP	23592263
MIRT457393	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT457392	hsa-miR-4736	PAR-CLIP	23592263
MIRT457391	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT457390	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457389	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT457388	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT457387	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT457386	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457385	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT457384	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT457383	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT457382	hsa-miR-5698	PAR-CLIP	23592263
MIRT457381	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT457379	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT457380	hsa-miR-4525	PAR-CLIP	23592263
MIRT457378	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT457377	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT457376	hsa-miR-4447	PAR-CLIP	23592263
MIRT457375	hsa-miR-4472	PAR-CLIP	23592263
MIRT457374	hsa-miR-1275	PAR-CLIP	23592263
MIRT457373	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT755478	hsa-miR-3200-3p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays	35287547
MIRT860097	hsa-miR-1207-5p	CLIP-seq
MIRT860098	hsa-miR-127-5p	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT860100	hsa-miR-1909	CLIP-seq
MIRT860101	hsa-miR-3128	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT860105	hsa-miR-3689d	CLIP-seq
MIRT860106	hsa-miR-409-3p	CLIP-seq
MIRT860107	hsa-miR-4443	CLIP-seq
MIRT860108	hsa-miR-4470	CLIP-seq
MIRT860109	hsa-miR-4487	CLIP-seq
MIRT860110	hsa-miR-4646-5p	CLIP-seq
MIRT860111	hsa-miR-4763-3p	CLIP-seq
MIRT860112	hsa-miR-4781-3p	CLIP-seq
MIRT860113	hsa-miR-4786-3p	CLIP-seq
MIRT860114	hsa-miR-569	CLIP-seq
MIRT860115	hsa-miR-657	CLIP-seq
MIRT860116	hsa-miR-1245b-5p	CLIP-seq
MIRT860098	hsa-miR-127-5p	CLIP-seq
MIRT860117	hsa-miR-3123	CLIP-seq
MIRT860118	hsa-miR-3125	CLIP-seq
MIRT860119	hsa-miR-3142	CLIP-seq
MIRT860120	hsa-miR-3150b-3p	CLIP-seq
MIRT860121	hsa-miR-3153	CLIP-seq
MIRT860122	hsa-miR-3179	CLIP-seq
MIRT860123	hsa-miR-3189-3p	CLIP-seq
MIRT860124	hsa-miR-3916	CLIP-seq
MIRT860125	hsa-miR-4311	CLIP-seq
MIRT860126	hsa-miR-4459	CLIP-seq
MIRT860109	hsa-miR-4487	CLIP-seq
MIRT860127	hsa-miR-4532	CLIP-seq
MIRT860110	hsa-miR-4646-5p	CLIP-seq
MIRT860128	hsa-miR-4695-5p	CLIP-seq
MIRT860129	hsa-miR-4707-5p	CLIP-seq
MIRT860130	hsa-miR-4784	CLIP-seq
MIRT860113	hsa-miR-4786-3p	CLIP-seq
MIRT860131	hsa-miR-541	CLIP-seq
MIRT860132	hsa-miR-583	CLIP-seq
MIRT860133	hsa-miR-654-5p	CLIP-seq
MIRT860134	hsa-miR-7	CLIP-seq
MIRT860135	hsa-miR-767-5p	CLIP-seq
MIRT1955234	hsa-miR-103a	CLIP-seq
MIRT1955235	hsa-miR-107	CLIP-seq
MIRT1955236	hsa-miR-1270	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT1955237	hsa-miR-138	CLIP-seq
MIRT1955238	hsa-miR-1827	CLIP-seq
MIRT1955239	hsa-miR-2110	CLIP-seq
MIRT860101	hsa-miR-3128	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT1955240	hsa-miR-3150a-3p	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT1955241	hsa-miR-326	CLIP-seq
MIRT1955242	hsa-miR-330-5p	CLIP-seq
MIRT1955243	hsa-miR-331-3p	CLIP-seq
MIRT1955244	hsa-miR-3614-5p	CLIP-seq
MIRT1955245	hsa-miR-3670	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT1955246	hsa-miR-4299	CLIP-seq
MIRT1955247	hsa-miR-432	CLIP-seq
MIRT1955248	hsa-miR-4480	CLIP-seq
MIRT1955249	hsa-miR-4531	CLIP-seq
MIRT1955250	hsa-miR-4720-5p	CLIP-seq
MIRT1955251	hsa-miR-4727-5p	CLIP-seq
MIRT1955252	hsa-miR-4769-3p	CLIP-seq
MIRT1955253	hsa-miR-4799-3p	CLIP-seq
MIRT1955254	hsa-miR-509-3p	CLIP-seq
MIRT1955255	hsa-miR-593	CLIP-seq
MIRT1955256	hsa-miR-620	CLIP-seq
MIRT1955257	hsa-miR-890	CLIP-seq
MIRT1955258	hsa-miR-939	CLIP-seq
MIRT1955259	hsa-miR-942	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT2192951	hsa-miR-137	CLIP-seq
MIRT1955237	hsa-miR-138	CLIP-seq
MIRT2192952	hsa-miR-148a	CLIP-seq
MIRT2192953	hsa-miR-148b	CLIP-seq
MIRT2192954	hsa-miR-152	CLIP-seq
MIRT1955239	hsa-miR-2110	CLIP-seq
MIRT2192955	hsa-miR-25	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT1955240	hsa-miR-3150a-3p	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT2192956	hsa-miR-32	CLIP-seq
MIRT2192957	hsa-miR-342-5p	CLIP-seq
MIRT2192958	hsa-miR-363	CLIP-seq
MIRT2192959	hsa-miR-367	CLIP-seq
MIRT1955245	hsa-miR-3670	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT1955246	hsa-miR-4299	CLIP-seq
MIRT2192960	hsa-miR-4325	CLIP-seq
MIRT2192961	hsa-miR-4651	CLIP-seq
MIRT2192962	hsa-miR-4664-5p	CLIP-seq
MIRT2192963	hsa-miR-4691-5p	CLIP-seq
MIRT2192964	hsa-miR-4697-3p	CLIP-seq
MIRT860129	hsa-miR-4707-5p	CLIP-seq
MIRT2192965	hsa-miR-4713-5p	CLIP-seq
MIRT2192966	hsa-miR-4787-5p	CLIP-seq
MIRT2192967	hsa-miR-491-5p	CLIP-seq
MIRT1955254	hsa-miR-509-3p	CLIP-seq
MIRT2192968	hsa-miR-512-3p	CLIP-seq
MIRT860131	hsa-miR-541	CLIP-seq
MIRT2192969	hsa-miR-570	CLIP-seq
MIRT2192970	hsa-miR-608	CLIP-seq
MIRT860133	hsa-miR-654-5p	CLIP-seq
MIRT860135	hsa-miR-767-5p	CLIP-seq
MIRT2192971	hsa-miR-92a	CLIP-seq
MIRT2192972	hsa-miR-92b	CLIP-seq
MIRT1955258	hsa-miR-939	CLIP-seq
MIRT2385493	hsa-miR-1290	CLIP-seq
MIRT2385494	hsa-miR-3167	CLIP-seq
MIRT2385495	hsa-miR-4540	CLIP-seq
MIRT2385496	hsa-miR-629	CLIP-seq
MIRT2385497	hsa-miR-876-5p	CLIP-seq
MIRT2385498	hsa-miR-1324	CLIP-seq
MIRT2385499	hsa-miR-3166	CLIP-seq
MIRT2436039	hsa-miR-338-3p	CLIP-seq
MIRT2436040	hsa-miR-4530	CLIP-seq
MIRT2436041	hsa-miR-4668-3p	CLIP-seq
MIRT2436042	hsa-miR-545	CLIP-seq
MIRT2436043	hsa-miR-548p	CLIP-seq
MIRT2436039	hsa-miR-338-3p	CLIP-seq
MIRT2436040	hsa-miR-4530	CLIP-seq
MIRT2436041	hsa-miR-4668-3p	CLIP-seq
MIRT2436042	hsa-miR-545	CLIP-seq
MIRT2436043	hsa-miR-548p	CLIP-seq
MIRT2496004	hsa-miR-4293	CLIP-seq
MIRT2496005	hsa-miR-625	CLIP-seq
MIRT2496004	hsa-miR-4293	CLIP-seq
MIRT2496005	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0002931	Process	Response to ischemia	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	28130356
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IBA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IDA	11972023, 35568036
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	TAS	11972023
GO:0005515	Function	Protein binding	IPI	17052756, 19453375, 20668654, 22939624, 25852190, 27173435, 28130356, 29426014, 31980649, 32296183, 32707033, 32814053, 33961781, 36931259
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	20668654
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654, 28130356
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IEA
GO:0006468	Process	Protein phosphorylation	IDA	17052756
GO:0006816	Process	Calcium ion transport	ISS
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	11972023, 28753426
GO:0010666	Process	Positive regulation of cardiac muscle cell apoptotic process	ISS
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016301	Function	Kinase activity	IDA	17052756
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0035254	Function	Glutamate receptor binding	ISS
GO:0035458	Process	Cellular response to interferon-beta	IDA	28753426
GO:0035458	Process	Cellular response to interferon-beta	IDA	35568036
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	20584908
GO:0042802	Function	Identical protein binding	IPI	20668654, 21884935
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	20668654
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043197	Component	Dendritic spine	IDA	28130356
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	16257975
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IDA	11972023, 35568036
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	17052756
GO:0051346	Process	Negative regulation of hydrolase activity	ISS
GO:0051928	Process	Positive regulation of calcium ion transport	ISS
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	TAS	20668654
GO:0060996	Process	Dendritic spine development	IMP	28130356
GO:0071346	Process	Cellular response to type II interferon	IDA	11972023
GO:0071346	Process	Cellular response to type II interferon	IDA	11972023
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902108	Process	Regulation of mitochondrial membrane permeability involved in apoptotic process	ISS
GO:1903076	Process	Regulation of protein localization to plasma membrane	IBA
GO:1990443	Process	Peptidyl-threonine autophosphorylation	IMP	28130356
GO:2000124	Process	Regulation of endocannabinoid signaling pathway	ISS
GO:2001222	Process	Regulation of neuron migration	IMP	29100089

Other IDs

• MIM: 114078
• HGNC: 1460
• e!Ensembl: ENSG00000070808

Protein

• UniProt ID: Q9UQM7
• Protein name: Calcium/calmodulin-dependent protein kinase type II subunit alpha (CaM kinase II subunit alpha) (CaMK-II subunit alpha) (EC 2.7.11.17)
• Protein function: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiati
• PDB: 2VZ6, 3SOA, 5IG3, 6OF8, 6VZK, 6W4O, 6W4P, 6X5G, 6X5Q, 7KL0, 7KL1, 7KL2, 7REC, 7UIQ, 7UIR, 7UIS, 7UJP, 7UJQ, 7UJR, 7UJS, 7UJT, 9EOY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	13 → 271	Protein kinase domain	Domain
  PF08332	CaMKII_AD	346 → 473	Calcium/calmodulin dependent protein kinase II association domain	Domain

• Sequence:

  MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLERE
  ARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQIL
  EAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYL
  SPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTV
  TPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLK
  GAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEA
  ISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIH
  LMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH

• Sequence length: 478

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
Global developmental delay	Likely pathogenic	rs1580966945	RCV001255385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982	RCV000577925 RCV000577902 RCV000577918 RCV000577905 RCV000577883 RCV000577915 RCV000577897 RCV000577878	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal dominant 53	Likely pathogenic; Pathogenic	rs2150280830, rs2150315525, rs2150279502, rs2532315012, rs2532319609, rs2532312025, rs2532311966, rs1554121872, rs1554121875, rs926027867, rs1554122129, rs1287121256, rs1554122526, rs1554121878, rs1580966945, rs61732056	RCV001507313 RCV001706924 RCV002274473 RCV002468817 RCV003149128 RCV003149129 RCV003761181 RCV000516152 RCV000516155 RCV002470885 RCV000516153 RCV000516151 RCV000516156 RCV000678211 RCV000678213 RCV000824996 RCV001270422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal recessive 63	Likely pathogenic; Pathogenic	rs2532327182, rs1554119274, rs61732056	RCV004560490 RCV000678210 RCV001270422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMK2A-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	21811019	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	27581300		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33673283	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37510258	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29147782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	21611732, 31150948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21611732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	25730879, 27063557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	31150948		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31150948		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30220561	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	36854487	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	21611732		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Congenital digestive system anomalies	Congenital Digestive System Anomalies	CLINVAR_DG	29100089		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	16247765, 21611732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	21611732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	23695276, 29784083, 37510258	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31555879		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	25069764	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	26476406		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29393370		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29393370	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29393370		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33765507	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35287547, 37336288	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	29100089		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG	29100089		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29784083	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	23519153		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	23519153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	BEFREE	28757327		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	36854487	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31175066		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36709476, 38188159	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24806094		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	28067908		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23695276, 25790162, 29100089		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23695276, 29784083, 34946860, 37510258	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	29100089, 29560374		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Language Development Disorders	Language development disorders	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	25450466		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18068248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	23695276		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	23695276, 25790162	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	39738767	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	16247765, 21611732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	21611732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	Mental retardation	UNIPROT_DG	25533962, 28130356, 29100089, 29560374		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	Mental retardation	UNIPROT_DG	29784083		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	38291185	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	24384746		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	29100089		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	23518061	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28663722, 31016106		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	29784083	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	15520383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	29806631	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17632540		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31016106		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29547942	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16247765		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	17603807		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29784083, 37510258	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16565089		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	18068248		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	CLINVAR_DG	29100089		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG	29100089		★☆☆☆☆ Found in Text Mining only