CAMK2G (calcium/calmodulin dependent protein kinase II gamma)

Gene

• Entrez ID: 818
• Gene name: Calcium/calmodulin dependent protein kinase II gamma
• Gene symbol: CAMK2G
• Synonyms (NCBI Gene): CAMK, CAMK-II, CAMKG, MRD59
• Chromosome: 10
• Chromosome location: 10q22.2
• Summary: The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514627	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004446	hsa-miR-219a-5p	Luciferase reporter assay	19196972
MIRT024052	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT031976	hsa-miR-16-5p	Proteomics	18668040
MIRT043311	hsa-miR-331-3p	CLASH	23622248
MIRT053737	hsa-miR-1268a	Microarray	22942087
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720328	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT720327	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT720326	hsa-miR-4301	HITS-CLIP	19536157
MIRT720325	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720324	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720323	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT720322	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT659906	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT659905	hsa-miR-4704-5p	HITS-CLIP	23824327
MIRT659904	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT659903	hsa-miR-623	HITS-CLIP	23824327
MIRT659902	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659901	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT659900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659899	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT659898	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT659897	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720328	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT720327	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT720326	hsa-miR-4301	HITS-CLIP	19536157
MIRT720325	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720324	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720323	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT720322	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT659906	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT659905	hsa-miR-4704-5p	HITS-CLIP	23824327
MIRT659904	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT659903	hsa-miR-623	HITS-CLIP	23824327
MIRT659902	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659901	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT659900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659899	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT659898	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT659897	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT860256	hsa-miR-1202	CLIP-seq
MIRT860257	hsa-miR-1248	CLIP-seq
MIRT860258	hsa-miR-1976	CLIP-seq
MIRT860259	hsa-miR-2278	CLIP-seq
MIRT860260	hsa-miR-2392	CLIP-seq
MIRT860261	hsa-miR-3972	CLIP-seq
MIRT860262	hsa-miR-4274	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT860264	hsa-miR-4446-3p	CLIP-seq
MIRT860265	hsa-miR-4535	CLIP-seq
MIRT860266	hsa-miR-4675	CLIP-seq
MIRT860267	hsa-miR-4722-3p	CLIP-seq
MIRT860268	hsa-miR-4741	CLIP-seq
MIRT860269	hsa-miR-4755-3p	CLIP-seq
MIRT860270	hsa-miR-4778-3p	CLIP-seq
MIRT860271	hsa-miR-485-3p	CLIP-seq
MIRT860272	hsa-miR-492	CLIP-seq
MIRT860273	hsa-miR-633	CLIP-seq
MIRT860274	hsa-miR-876-3p	CLIP-seq
MIRT860275	hsa-miR-1245b-3p	CLIP-seq
MIRT860276	hsa-miR-28-5p	CLIP-seq
MIRT860277	hsa-miR-3139	CLIP-seq
MIRT860278	hsa-miR-3664-3p	CLIP-seq
MIRT860279	hsa-miR-3943	CLIP-seq
MIRT860280	hsa-miR-4323	CLIP-seq
MIRT860281	hsa-miR-4433	CLIP-seq
MIRT860282	hsa-miR-4459	CLIP-seq
MIRT860283	hsa-miR-4686	CLIP-seq
MIRT860284	hsa-miR-4705	CLIP-seq
MIRT860285	hsa-miR-4728-3p	CLIP-seq
MIRT860286	hsa-miR-4768-3p	CLIP-seq
MIRT860287	hsa-miR-4796-5p	CLIP-seq
MIRT860288	hsa-miR-499-3p	CLIP-seq
MIRT860289	hsa-miR-499a-3p	CLIP-seq
MIRT860290	hsa-miR-558	CLIP-seq
MIRT860291	hsa-miR-628-5p	CLIP-seq
MIRT860292	hsa-miR-708	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT1955294	hsa-miR-150	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT1955299	hsa-miR-4713-5p	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT2193030	hsa-miR-495	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2385501	hsa-miR-15a	CLIP-seq
MIRT2385502	hsa-miR-15b	CLIP-seq
MIRT2385503	hsa-miR-16	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2385504	hsa-miR-195	CLIP-seq
MIRT2385505	hsa-miR-330-3p	CLIP-seq
MIRT2385506	hsa-miR-424	CLIP-seq
MIRT2385507	hsa-miR-4667-3p	CLIP-seq
MIRT2385508	hsa-miR-497	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2446139	hsa-miR-1298	CLIP-seq
MIRT2446140	hsa-miR-3661	CLIP-seq
MIRT2446141	hsa-miR-3684	CLIP-seq
MIRT2446142	hsa-miR-384	CLIP-seq
MIRT2446143	hsa-miR-555	CLIP-seq
MIRT2446144	hsa-miR-631	CLIP-seq
MIRT2496108	hsa-miR-101	CLIP-seq
MIRT2496109	hsa-miR-103a	CLIP-seq
MIRT2496110	hsa-miR-107	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT2496111	hsa-miR-1296	CLIP-seq
MIRT2496112	hsa-miR-1302	CLIP-seq
MIRT2496113	hsa-miR-1908	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2496114	hsa-miR-1915	CLIP-seq
MIRT2496115	hsa-miR-204	CLIP-seq
MIRT2496116	hsa-miR-211	CLIP-seq
MIRT2496117	hsa-miR-214	CLIP-seq
MIRT2496118	hsa-miR-22	CLIP-seq
MIRT2496119	hsa-miR-29a	CLIP-seq
MIRT2496120	hsa-miR-29b	CLIP-seq
MIRT2496121	hsa-miR-29c	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT2496122	hsa-miR-3120-3p	CLIP-seq
MIRT2496123	hsa-miR-3135b	CLIP-seq
MIRT2496124	hsa-miR-3151	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT2496125	hsa-miR-3166	CLIP-seq
MIRT2496126	hsa-miR-3192	CLIP-seq
MIRT2496127	hsa-miR-3619-5p	CLIP-seq
MIRT2496128	hsa-miR-3652	CLIP-seq
MIRT2496129	hsa-miR-3653	CLIP-seq
MIRT2496130	hsa-miR-3907	CLIP-seq
MIRT2496131	hsa-miR-423-3p	CLIP-seq
MIRT2496132	hsa-miR-4283	CLIP-seq
MIRT2496133	hsa-miR-4298	CLIP-seq
MIRT2496134	hsa-miR-4300	CLIP-seq
MIRT2496135	hsa-miR-4418	CLIP-seq
MIRT2496136	hsa-miR-4430	CLIP-seq
MIRT2496137	hsa-miR-4436b-3p	CLIP-seq
MIRT2496138	hsa-miR-4489	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT2496139	hsa-miR-4494	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT2496140	hsa-miR-4505	CLIP-seq
MIRT2496141	hsa-miR-4512	CLIP-seq
MIRT2496142	hsa-miR-4639-5p	CLIP-seq
MIRT2496143	hsa-miR-4645-3p	CLIP-seq
MIRT2496144	hsa-miR-4690-5p	CLIP-seq
MIRT2496145	hsa-miR-4771	CLIP-seq
MIRT2496146	hsa-miR-4795-5p	CLIP-seq
MIRT2496147	hsa-miR-509-3-5p	CLIP-seq
MIRT2496148	hsa-miR-509-5p	CLIP-seq
MIRT2496149	hsa-miR-544	CLIP-seq
MIRT2496150	hsa-miR-663	CLIP-seq
MIRT2496151	hsa-miR-761	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496152	hsa-miR-765	CLIP-seq
MIRT2496153	hsa-miR-920	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496109	hsa-miR-103a	CLIP-seq
MIRT2496110	hsa-miR-107	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2677322	hsa-miR-1226	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT2496111	hsa-miR-1296	CLIP-seq
MIRT2496112	hsa-miR-1302	CLIP-seq
MIRT2496113	hsa-miR-1908	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2496114	hsa-miR-1915	CLIP-seq
MIRT2496117	hsa-miR-214	CLIP-seq
MIRT2496118	hsa-miR-22	CLIP-seq
MIRT2496119	hsa-miR-29a	CLIP-seq
MIRT2496120	hsa-miR-29b	CLIP-seq
MIRT2496121	hsa-miR-29c	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT2496125	hsa-miR-3166	CLIP-seq
MIRT2496126	hsa-miR-3192	CLIP-seq
MIRT2496127	hsa-miR-3619-5p	CLIP-seq
MIRT2496130	hsa-miR-3907	CLIP-seq
MIRT2496131	hsa-miR-423-3p	CLIP-seq
MIRT2496133	hsa-miR-4298	CLIP-seq
MIRT2496134	hsa-miR-4300	CLIP-seq
MIRT2496135	hsa-miR-4418	CLIP-seq
MIRT2496137	hsa-miR-4436b-3p	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT2496139	hsa-miR-4494	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT2496140	hsa-miR-4505	CLIP-seq
MIRT2496141	hsa-miR-4512	CLIP-seq
MIRT2677323	hsa-miR-4677-3p	CLIP-seq
MIRT2496144	hsa-miR-4690-5p	CLIP-seq
MIRT2496145	hsa-miR-4771	CLIP-seq
MIRT2677324	hsa-miR-4794	CLIP-seq
MIRT2496147	hsa-miR-509-3-5p	CLIP-seq
MIRT2496148	hsa-miR-509-5p	CLIP-seq
MIRT2496149	hsa-miR-544	CLIP-seq
MIRT2677325	hsa-miR-605	CLIP-seq
MIRT2677326	hsa-miR-627	CLIP-seq
MIRT2677327	hsa-miR-634	CLIP-seq
MIRT2496150	hsa-miR-663	CLIP-seq
MIRT2496151	hsa-miR-761	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496152	hsa-miR-765	CLIP-seq
MIRT2496153	hsa-miR-920	CLIP-seq
MIRT2677328	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
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	IEA
GO:0004723	Function	Calcium-dependent protein serine/threonine phosphatase activity	NAS	9060999
GO:0005515	Function	Protein binding	IPI	20668654, 22939624, 32296183, 32707033, 33961781, 35271311
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	NAS	9060999
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA
GO:0010975	Process	Regulation of neuron projection development	IMP	30184290
GO:0014069	Component	Postsynaptic density	IBA
GO:0014733	Process	Regulation of skeletal muscle adaptation	TAS	15294044
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030073	Process	Insulin secretion	NAS	9240463
GO:0030154	Process	Cell differentiation	IEA
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	20668654
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	20668654
GO:0043005	Component	Neuron projection	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IBA
GO:0051924	Process	Regulation of calcium ion transport	TAS	15294044
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	TAS	20668654
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IBA

Other IDs

• MIM: 602123
• HGNC: 1463
• e!Ensembl: ENSG00000148660

Protein

• UniProt ID: Q13555
• Protein name: Calcium/calmodulin-dependent protein kinase type II subunit gamma (CaM kinase II subunit gamma) (CaMK-II subunit gamma) (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 sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine an
• PDB: 2UX0, 2V7O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	14 → 272	Protein kinase domain	Domain
  PF08332	CaMKII_AD	426 → 553	Calcium/calmodulin dependent protein kinase II association domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:16690701}.
• Sequence:

  MATTATCTRFTDDYQLFEELGKGAFSVVRRCVKKTSTQEYAAKIINTKKLSARDHQKLER
  EARICRLLKHPNIVRLHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIHQI
  LESVNHIHQHDIVHRDLKPENLLLASKCKGAAVKLADFGLAIEVQGEQQAWFGFAGTPGY
  LSPEVLRKDPYGKPVDIWACGVILYILLVGYPPFWDEDQHKLYQQIKAGAYDFPSPEWDT
  VTPEAKNLINQMLTINPAKRITADQALKHPWVCQRSTVASMMHRQETVECLRKFNARRKL
  KGAILTTMLVSRNFSAAKSLLNKKSDGGVKKRKSSSSVHLMPQSNNKNSLVSPAQEPAPL
  QTAMEPQTTVVHNATDGIKGSTESCNTTTEDEDLKGRVPEGRSSRDRTAPSAGMQPQPSL
  CSSAMRKQEIIKITEQLIEAINNGDFEAYTKICDPGLTSFEPEALGNLVEGMDFHKFYFE
  NLLSKNSKPIHTTILNPHVHVIGEDAACIAYIRLTQYIDGQGRPRTSQSEETRVWHRRDG
  KWLNVHYHCSGAPAAPLQ

• Sequence length: 558

Pathways

KEGG:

ErbB signaling pathway
Calcium signaling pathway
cAMP signaling pathway
HIF-1 signaling pathway
Oocyte meiosis
Efferocytosis
Necroptosis
Adrenergic signaling in cardiomyocytes
Wnt signaling pathway
Axon guidance
Circadian entrainment
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Dopaminergic synapse
Olfactory transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Melanogenesis
Oxytocin signaling pathway
Glucagon signaling pathway
Aldosterone synthesis and secretion
Cushing syndrome
Gastric acid secretion
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Tuberculosis
Pathways in cancer
Proteoglycans in cancer
Glioma
Diabetic cardiomyopathy
Lipid and atherosclerosis

Reactome:

HSF1-dependent transactivation
Trafficking of AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Phase 0 - rapid depolarisation
Ion homeostasis
RAF activation
RAF/MAP kinase cascade
Signaling by moderate kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Interferon gamma signaling
Ion transport by P-type ATPases
Signaling downstream of RAS mutants

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
Autism	Likely pathogenic; Pathogenic	rs397514627	RCV000678045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic; Pathogenic	rs397514627	RCV000678045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs397514627	RCV000678045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder 59	Likely pathogenic; Pathogenic	rs2134277165, rs2548530010, rs2547960192, rs397514627	RCV002250979 RCV002291094 RCV003991680 RCV001588840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs397514627	RCV000033109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMK2G-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMK2G-related syndromic intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ 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
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	24731980	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31397354		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	25800665	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29054677		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29054677		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	25815641, 25910598, 29410121, 36671453	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	20353560	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12937144	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	10403399	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28011257	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	37523735	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27605043	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28869833, 35724265	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37300940	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37372357	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	25910598, 27688314	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34196135	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11274166, 28970726	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19298255, 28692053, 28970726, 33761465	Associate	★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32483284	Inhibit	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	25800665	Associate	★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	28011257	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29054677		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37372357	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35767566	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12032636		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	12937144		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28640357		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	32641029	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12937144		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12937144, 21649900, 30816530	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12496285, 20139089, 22049206, 23261316, 30816530, 31593589	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30816530		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease Type IIb	Glycogen storage disease	Pubtator	36671453	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25910598	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	25201344, 25815641, 25910598, 29410121, 35805993	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20392834	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	25910598	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	30205161	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	24793904	Associate	★☆☆☆☆ Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	BEFREE	24793904		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28232802		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30184290		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	37510258	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	33039869	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25446257	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11376870, 17431504, 18483256, 25446257	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18483256	Associate	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	36496072	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	35482553	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28319059		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	9060999		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29054677		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36137748	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29901626	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	17431504, 18483256		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9060999		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	9060999	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30205161	Stimulate	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	34888671	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29054677		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17387273, 20454608	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25939698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	GWASCAT_DG	26626624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	30184290		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28428622		★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	GENOMICS_ENGLAND_DG	28388656		★☆☆☆☆ Found in Text Mining only