Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57338
Gene name	Junctophilin 3
Gene symbol	JPH3
Synonyms (NCBI Gene)	CAGL237HDL2JP-3JP3TNRC22
Chromosome	16
Chromosome location	16q24.2
Summary	Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a comp

147

Show/Hide all (147)

miRTarBase ID	miRNA	Experiments	Reference
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623560	hsa-miR-455-3p	HITS-CLIP	23824327
MIRT623559	hsa-miR-1910-5p	HITS-CLIP	23824327
MIRT623558	hsa-miR-1470	HITS-CLIP	23824327
MIRT623557	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623556	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT623555	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT623554	hsa-miR-4469	HITS-CLIP	23824327
MIRT623553	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623552	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT623551	hsa-miR-202-5p	HITS-CLIP	23824327
MIRT623550	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT1077565	hsa-miR-103a	CLIP-seq
MIRT1077566	hsa-miR-107	CLIP-seq
MIRT1077567	hsa-miR-1237	CLIP-seq
MIRT1077568	hsa-miR-148a	CLIP-seq
MIRT1077569	hsa-miR-148b	CLIP-seq
MIRT1077570	hsa-miR-152	CLIP-seq
MIRT1077571	hsa-miR-1587	CLIP-seq
MIRT1077572	hsa-miR-1825	CLIP-seq
MIRT1077573	hsa-miR-186	CLIP-seq
MIRT1077574	hsa-miR-188-5p	CLIP-seq
MIRT1077575	hsa-miR-1913	CLIP-seq
MIRT1077576	hsa-miR-1976	CLIP-seq
MIRT1077577	hsa-miR-199a-5p	CLIP-seq
MIRT1077578	hsa-miR-199b-5p	CLIP-seq
MIRT1077579	hsa-miR-3120-5p	CLIP-seq
MIRT1077580	hsa-miR-3133	CLIP-seq
MIRT1077581	hsa-miR-3182	CLIP-seq
MIRT1077582	hsa-miR-3189-5p	CLIP-seq
MIRT1077583	hsa-miR-324-3p	CLIP-seq
MIRT1077584	hsa-miR-342-3p	CLIP-seq
MIRT1077585	hsa-miR-3620	CLIP-seq
MIRT1077586	hsa-miR-377	CLIP-seq
MIRT1077587	hsa-miR-378g	CLIP-seq
MIRT1077588	hsa-miR-3908	CLIP-seq
MIRT1077589	hsa-miR-3942-5p	CLIP-seq
MIRT1077590	hsa-miR-3944-5p	CLIP-seq
MIRT1077591	hsa-miR-4280	CLIP-seq
MIRT1077592	hsa-miR-4492	CLIP-seq
MIRT1077593	hsa-miR-4498	CLIP-seq
MIRT1077594	hsa-miR-4633-3p	CLIP-seq
MIRT1077595	hsa-miR-4656	CLIP-seq
MIRT1077596	hsa-miR-4675	CLIP-seq
MIRT1077597	hsa-miR-4695-3p	CLIP-seq
MIRT1077598	hsa-miR-4703-5p	CLIP-seq
MIRT1077599	hsa-miR-4722-3p	CLIP-seq
MIRT1077600	hsa-miR-4741	CLIP-seq
MIRT1077601	hsa-miR-4758-3p	CLIP-seq
MIRT1077602	hsa-miR-4766-3p	CLIP-seq
MIRT1077603	hsa-miR-762	CLIP-seq
MIRT1077604	hsa-miR-767-3p	CLIP-seq
MIRT1077567	hsa-miR-1237	CLIP-seq
MIRT2019270	hsa-miR-1269	CLIP-seq
MIRT2019271	hsa-miR-1269b	CLIP-seq
MIRT2019272	hsa-miR-1288	CLIP-seq
MIRT2019273	hsa-miR-1827	CLIP-seq
MIRT2019274	hsa-miR-4487	CLIP-seq
MIRT2019275	hsa-miR-4515	CLIP-seq
MIRT2019276	hsa-miR-4529-3p	CLIP-seq
MIRT1077594	hsa-miR-4633-3p	CLIP-seq
MIRT2019277	hsa-miR-4724-5p	CLIP-seq
MIRT2019278	hsa-miR-4740-5p	CLIP-seq
MIRT2251152	hsa-miR-3918	CLIP-seq
MIRT2251153	hsa-miR-4640-5p	CLIP-seq
MIRT2251154	hsa-miR-4726-5p	CLIP-seq
MIRT2251155	hsa-miR-541	CLIP-seq
MIRT2251156	hsa-miR-654-5p	CLIP-seq
MIRT2452089	hsa-miR-330-3p	CLIP-seq
MIRT2452090	hsa-miR-3714	CLIP-seq
MIRT2452091	hsa-miR-4708-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	TAS	19095005
GO:0010882	Process	Regulation of cardiac muscle contraction by calcium ion signaling	TAS	19095005
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	IEA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	TAS	19095005
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10891348
GO:0030314	Component	Junctional membrane complex	IBA
GO:0030314	Component	Junctional membrane complex	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0040011	Process	Locomotion	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060402	Process	Calcium ion transport into cytosol	IEA
GO:0060402	Process	Calcium ion transport into cytosol	TAS	19095005

MIM	HGNC	e!Ensembl
605268	14203	ENSG00000154118

Q8WXH2

Protein name

Junctophilin-3 (JP-3) (Junctophilin type 3) (Trinucleotide repeat-containing gene 22 protein)

Protein function

Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk betwee

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02493	MORN	15 → 37	MORN repeat	Repeat
PF02493	MORN	39 → 60	MORN repeat	Repeat
PF02493	MORN	61 → 80	MORN repeat	Repeat
PF02493	MORN	83 → 104	MORN repeat	Repeat
PF02493	MORN	107 → 129	MORN repeat	Repeat
PF02493	MORN	130 → 152	MORN repeat	Repeat
PF02493	MORN	288 → 310	MORN repeat	Repeat
PF02493	MORN	311 → 333	MORN repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:10891348}.

Sequence

MSSGGRFNFDDGGSYCGGWEDGKAHGHGVCTGPKGQGEYTGSWSHGFEVLGVYTWPSGNT
YQGTWAQGKRHGIGLESKGKWVYKGEWTHGFKGRYGVRECAGNGAKYEGTWSNGLQDGYG
TETYSDGGTYQGQWVGGMRQGYGVRQSVPYGMAAVIRSPLRTSINSLRSEHTNGTALHPD
ASPAVAGSPAVSRGGFVLVAHSDSEILKSKKKGLFRRSLLSGLKLRKSESKSSLASQRSK
QSSFRSEAGMSTVSSTASDIHSTISLGEAEAELAVIEDDIDATTTETYVGEWKNDKRSGF
GVSQRSDGLKYEGEWASNRRHGYGCMTFPDGTKEEGKYKQNILVGGKRKNLIPLRASKIR
EKVDRAVEAAERAATIAKQKAEIAASRTSHSRAKAEAALTAAQKAQEEARIARITAKEFS
PSFQHRENGLEYQRPKRQTSCDDIEVLSTGTPLQQESPELYRKGTTPSDLTPDDSPLQSF
PTSPAATPPPAPAARNKVAHFSRQVSVDEERGGDIQMLLEGRAGDCARSSWGEEQAGGSR
GVRSGALRGGLLVDDFRTRGSGRKQPGNPKPRERRTESPPVFTWTSHHRASNHSPGGSRL
LELQEEKLSNYRMEMKPLLRMETHPQKRRYSKGGACRGLGDDHRPEDRGFGVQRLRSKAQ
NKENFRPASSAEPAVQKLASLRLGGAEPRLLRWDLTFSPPQKSLPVALESDEENGDELKS
STGSAPILVVMVILLNIGVAILFINFFI

Sequence length

748

Interactions

View interactions

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)

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA IN HUNTINGTONS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington disease-like 2	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JPH3-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (80)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	8311419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24269018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	28436274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	26485305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	8937759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	22297462, 22971727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	8937759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26970778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35169860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29391013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	28450678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	2971084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	12642787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	14557581, 24102565, 29253590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17892325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17892325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28656064	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28207870, 2971084, 3808790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12747600, 21986251, 28207870, 2971084, 3808790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20307520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28207870, 2971084, 3808790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	17708569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22447335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	18651325, 22297462, 22971727, 23812307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18544706, 28365559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18544706, 28365559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12788901, 28365559, 7956623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	BEFREE	7485205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	18181206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	28656064	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11914418, 12805114, 18651325, 21555070, 21838519, 22971727, 24102565, 26079385, 26882115, 30169122, 30682531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington Disease	LHGDN	11914418		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	26079385, 33824468	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	BEFREE	11694876, 14557581, 17387722, 17708569, 18651325, 21555070, 22971727, 26079385, 27288455, 27749395, 28656064, 29253590, 30682531, 31704316		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	CTD_human_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HUNTINGTON DISEASE-LIKE 2	Huntington Disease-Like	ORPHANET_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Huntington disease-like 2	Huntington Disease-Like	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hyperinsulinism	Hyperinsulinism	BEFREE	27651477, 9050775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	2659186, 6851139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	14767865, 9690923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	6492484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	21527752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27651477, 2971084, 30302964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemia, Familial	Hypoalphalipoproteinemia	BEFREE	186077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	Pubtator	16858508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	1778223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypobetalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	29253590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28656064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28207870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly with Mental Retardation and Digital Anomalies	Microcephaly	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	LHGDN	17708569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33824468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	17387722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28656064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17708569, 18651325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroferritinopathy	Neuroferritinopathy	BEFREE	23812307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	24269018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	24269018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	3593076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22447335		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	8937759		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	18651325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	24102565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	25218607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	BEFREE	7485205		★★★★★ ★☆☆☆☆ Found in Text Mining only

JPH3 (junctophilin 3)