KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)

Gene

• Entrez ID: 3762
• Gene name: Potassium inwardly rectifying channel subfamily J member 5
• Gene symbol: KCNJ5
• Synonyms (NCBI Gene): CIR, GIRK4, KATP1, KIR3.4, LQT13
• Chromosome: 11
• Chromosome location: 11q24.3
• Summary: This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140697732	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199830292	G>C	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs200170681	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs386352318	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386352319	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs387906778	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777437	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777438	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777439	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081549	hsa-miR-128	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081552	hsa-miR-1909	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1081560	hsa-miR-3689a-3p	CLIP-seq
MIRT1081561	hsa-miR-3689c	CLIP-seq
MIRT1081562	hsa-miR-3689d	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081564	hsa-miR-4302	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT1081571	hsa-miR-4728-5p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081575	hsa-miR-541	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081578	hsa-miR-654-5p	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT2020212	hsa-miR-3182	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT2020216	hsa-miR-4659a-3p	CLIP-seq
MIRT2020217	hsa-miR-4659b-3p	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT2252039	hsa-miR-760	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	12297500, 20560207
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	8558261, 22628607, 24037882, 27099398, 27293068
GO:0005515	Function	Protein binding	IPI	12297500, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	8834003
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	20560207
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	8834003
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IDA	8558261, 8868049
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IEA
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	IEA
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	TAS	8834003
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	NAS	19703462
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	20560207
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	20560207
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	20560207
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0099625	Process	Ventricular cardiac muscle cell membrane repolarization	IC	20560207
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IC	20560207
GO:1902937	Component	Inward rectifier potassium channel complex	IEA
GO:1990566	Component	I(KACh) inward rectifier potassium channel complex	ISO
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	12297500, 20560207

Other IDs

• MIM: 600734
• HGNC: 6266
• e!Ensembl: ENSG00000120457

Protein

• UniProt ID: P48544
• Protein name: G protein-activated inward rectifier potassium channel 4 (GIRK-4) (Cardiac inward rectifier) (CIR) (Heart KATP channel) (Inward rectifier K(+) channel Kir3.4) (IRK-4) (KATP-1) (Potassium channel, inwardly rectifying subfamily J member 5)
• Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potass
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01007	IRK	54 → 193	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	200 → 372	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Islets, exocrine pancreas and heart. Expressed in the adrenal cortex, particularly the zona glomerulosa. {ECO:0000269|PubMed:21311022}.
• Sequence:

  MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKC
  NVHHGNVQETYRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDH
  VGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQAILGSIVNA
  FMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
  SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFE
  VVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTP
  SCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQNEEDEPKGLGGSREARGSV

• Sequence length: 419

Pathways

KEGG:

Circadian entrainment
Retrograde endocannabinoid signaling
Serotonergic synapse
Dopaminergic synapse
Estrogen signaling pathway
Oxytocin signaling pathway
Aldosterone synthesis and secretion
GnRH secretion
Morphine addiction

Reactome:

Activation of G protein gated Potassium channels
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

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
Aldosterone-producing adrenal adenoma, somatic	Pathogenic	rs387906778, rs386352319	RCV000122747 RCV000122749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Andersen Tawil syndrome	Pathogenic	rs387906778	RCV000194572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic	rs386352319	RCV002326795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hyperaldosteronism type III	Pathogenic	rs587777437, rs587777438, rs587777439, rs387906778, rs386352319	RCV000122751 RCV000122752 RCV000122753 RCV000023035 RCV000122750	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long QT syndrome	Pathogenic; Likely pathogenic	rs587777437, rs145901904, rs386352319	RCV001210015 RCV001966490 RCV003531964	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDERSEN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDERSEN-TAWIL SYNDROME	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital long QT syndrome	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperaldosteronism	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL HYPERALDOSTERONISM TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE III	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KCNJ5-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 13	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO CTD, ClinVar, Disgenet, GenCC, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROMANO-WARD SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	22275527, 22278422, 22315453, 22323562, 22359160, 22476103, 22628608, 22848660, 22863749, 23229280, 23318698, 23946277, 24037882, 24082052, 24420545, 24506072, 24739312, 24758183, 25069672, 25617716, 25624344, 25998841, 26445452, 26743443, 27681703, 27777363, 28415786, 30569443, 30753137, 31287546, 31351131, 31446799		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	26765578, 27754862, 31006333		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	22275527		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	22278422		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	22308486, 26445452		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	21311022, 22308486	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22315453, 35185794	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22476103		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	19584308		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	24574546, 28336205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	ORPHANET_DG	24574546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	CLINVAR_DG	24574546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	28336205, 33345742	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen-Tawil syndrome	Andersen Tawil Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27707468	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	11693772	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	11714649, 21555883, 30764634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	27462069	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	28416818, 29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	24840790	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24840790		★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	21311022, 22308486, 22848660, 27681703	Associate	★☆☆☆☆ Found in Text Mining only
Bradyarrhythmia (disorder)	Bradyarrhythmia	BEFREE	30764634		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15603589	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	27707468, 39940965	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	35311227	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12439606		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	24339868	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24339868		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18239147		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25253161	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30020487		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	22476103		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28561276		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	22308486, 26445452		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	22743686, 23012392, 23376008, 23382865, 23610123, 23946277, 24759126, 25253161, 25347571, 25424518, 25458695, 25617716, 25906099, 26066391, 26066531, 26573708, 26580238, 26807823, 27196470, 27219889, 27754862, 27777363, 28415786, 28604387, 28993452, 29016532, 29165597, 29409357, 30020487, 30354756, 31006333		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	22275527, 22308486, 22323562, 22628607, 22848660, 23012392, 23229280, 23382865, 23426162, 23778974, 24274318, 24420545, 24943299, 25424518, 25958045, 26125435, 26375812, 27293068, 29409357, 31216002, 31446799, 31637427		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	22278422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing syndrome	Pubtator	26743443, 27165862, 27403928, 32921192, 36960396	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	11544614		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	25322277		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	25322277	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11544614		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28804970	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23382865, 28102195		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	23382865	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hyperaldosteronism	Hyperaldosteronism	Pubtator	22315453	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial hyperaldosteronism type III	Hyperaldosteronism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Follicular adenoma	Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Friedreich Ataxia	Friedreich Ataxia	BEFREE	1861628		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	24840790		★☆☆☆☆ Found in Text Mining only
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	BEFREE	31287546		★☆☆☆☆ Found in Text Mining only
Glucocortocoid-insensitive primary hyperaldosteronism	Glucocortocoid-Insensitive Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	30403573		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	CTD_human_DG	26831068		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24427266	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	21311022, 22628608, 23318698, 23426162, 24943299, 25322277, 25424518, 25998841, 27293068, 29165597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	21311022, 22308486, 22315453, 22323562, 22628607, 22628608, 22798349, 22848660, 22863749, 23382865, 24037882, 24082052, 24403568, 24866132, 25057880, 25069672, 25253161, 25322277, 25458695, 25906099, 25958045, 26066391, 26252618, 26351028, 26743443, 26807823, 27099398, 27196470, 27293068, 27432863, 27681703, 27729216, 27754862, 27777363, 28102204, 28368480, 28415786, 28604387, 29409357, 30085035, 30354720, 30354756, 30739536, 30753137, 31006333, 31446799, 31484828, 32114847, 32411097, 32516371, 32717082, 32844168, 32921192, 33677921, 33678553, 33796077, 33894703, 34011803, 34681640, 34957562, 35185794, 35311227, 35779252, 36051386, 36921907, 40302475	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism, Familial, Type II	Hyperaldosteronism	BEFREE	22203740		★☆☆☆☆ Found in Text Mining only
HYPERALDOSTERONISM, FAMILIAL, TYPE III	Hyperaldosteronism	GENOMICS_ENGLAND_DG	16301704, 19716085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE III	Hyperaldosteronism	UNIPROT_DG	21311022, 22203740, 22275527, 22308486, 22315453, 22628607, 22848660, 24037882, 27099398		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE III	Hyperaldosteronism	ORPHANET_DG	24817817		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE III	Hyperaldosteronism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALDOSTERONISM, FAMILIAL, TYPE III	Hyperaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplasia	Hyperplasia	Pubtator	22308486, 22848660, 31637427, 33630995, 40302475	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21311022, 22308486, 22628607, 25057880, 25253161, 27293068, 28415786, 33678553	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22308486, 22628607, 24759126, 26407873, 26445452, 27293068, 28415786, 29016532, 31216002		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	25253161	Associate	★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	30978208		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	24759126, 25253161		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28246275		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28561276		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	20560207, 24561134	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT Syndrome	Long QT Syndrome	BEFREE	23872692		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LONG QT SYNDROME 13	Long QT Syndrome	GENOMICS_ENGLAND_DG	16301704, 19716085		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LONG QT SYNDROME 13	Long QT Syndrome	UNIPROT_DG	20560207		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LONG QT SYNDROME 13	Long QT Syndrome	CLINVAR_DG	20560207		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LONG QT SYNDROME 13	Long QT Syndrome	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Neoplasms	Lung Neoplasms	LHGDN	16109170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12439606		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	22645387		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22275527, 22278422, 22323562, 22442279, 23778974, 23913001, 23946277, 26066531, 26252618, 26285814, 26606680, 27165862, 30354756, 30753137, 31351131		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25424518		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8643076		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Aldosterone-producing adenoma	Hyperaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22645387		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37986397	Associate	★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	23913001, 23913004		★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	33345742	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	22278422		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	39536727	Associate	★☆☆☆☆ Found in Text Mining only
Romano-Ward syndrome	Romano-Ward Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Romano-Ward Syndrome	Romano-Ward Syndrome	ORPHANET_DG	24093767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	29459855		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	CTD_human_DG	26831068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	37894977	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	20110696, 30645171		★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	CTD_human_DG	26831068		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	24840790	Associate	★☆☆☆☆ Found in Text Mining only