KCNN4 (potassium calcium-activated channel subfamily N member 4)

Gene

• Entrez ID: 3783
• Gene name: Potassium calcium-activated channel subfamily N member 4
• Gene symbol: KCNN4
• Synonyms (NCBI Gene): DHS2, IK, IK1, IKCA1, KCA4, KCa3.1, SK4, SKCa4, hIK1, hIKCa1, hKCa4, hSK4
• Chromosome: 19
• Chromosome location: 19q13.31
• Summary: The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs774455945	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057519076	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057519077	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001448	hsa-miR-16-5p	pSILAC	18668040
MIRT019994	hsa-miR-375	Microarray	20215506
MIRT024000	hsa-miR-1-3p	Proteomics	18668040
MIRT028637	hsa-miR-30a-5p	Proteomics	18668040
MIRT001448	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT731965	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	27531900
MIRT731965	hsa-miR-497-5p	Luciferase reporter assay, qRT-PCR, Western blot	27531900
MIRT1082200	hsa-miR-103a	CLIP-seq
MIRT1082201	hsa-miR-107	CLIP-seq
MIRT1082202	hsa-miR-15a	CLIP-seq
MIRT1082203	hsa-miR-15b	CLIP-seq
MIRT1082204	hsa-miR-16	CLIP-seq
MIRT1082205	hsa-miR-195	CLIP-seq
MIRT1082206	hsa-miR-3135b	CLIP-seq
MIRT1082207	hsa-miR-3174	CLIP-seq
MIRT1082208	hsa-miR-338-3p	CLIP-seq
MIRT1082209	hsa-miR-3689d	CLIP-seq
MIRT1082210	hsa-miR-424	CLIP-seq
MIRT1082211	hsa-miR-4487	CLIP-seq
MIRT1082212	hsa-miR-4524	CLIP-seq
MIRT1082213	hsa-miR-4530	CLIP-seq
MIRT1082214	hsa-miR-4693-3p	CLIP-seq
MIRT1082215	hsa-miR-4786-3p	CLIP-seq
MIRT1082216	hsa-miR-497	CLIP-seq
MIRT1082217	hsa-miR-503	CLIP-seq
MIRT1082218	hsa-miR-545	CLIP-seq
MIRT1082219	hsa-miR-646	CLIP-seq
MIRT1082220	hsa-miR-766	CLIP-seq
MIRT1082221	hsa-miR-921	CLIP-seq
MIRT2020478	hsa-miR-1224-3p	CLIP-seq
MIRT2020479	hsa-miR-125a-3p	CLIP-seq
MIRT2020480	hsa-miR-1260	CLIP-seq
MIRT2020481	hsa-miR-1260b	CLIP-seq
MIRT2020482	hsa-miR-1280	CLIP-seq
MIRT2020483	hsa-miR-188-3p	CLIP-seq
MIRT2020484	hsa-miR-1912	CLIP-seq
MIRT2020485	hsa-miR-3130-5p	CLIP-seq
MIRT2020486	hsa-miR-3156-3p	CLIP-seq
MIRT2020487	hsa-miR-3677-3p	CLIP-seq
MIRT2020488	hsa-miR-3934	CLIP-seq
MIRT2020489	hsa-miR-4277	CLIP-seq
MIRT2020490	hsa-miR-4293	CLIP-seq
MIRT2020491	hsa-miR-4326	CLIP-seq
MIRT2020492	hsa-miR-4482	CLIP-seq
MIRT2020493	hsa-miR-4691-5p	CLIP-seq
MIRT2020494	hsa-miR-562	CLIP-seq
MIRT2020495	hsa-miR-596	CLIP-seq
MIRT2020496	hsa-miR-764	CLIP-seq
MIRT1082200	hsa-miR-103a	CLIP-seq
MIRT1082201	hsa-miR-107	CLIP-seq
MIRT1082202	hsa-miR-15a	CLIP-seq
MIRT1082203	hsa-miR-15b	CLIP-seq
MIRT1082204	hsa-miR-16	CLIP-seq
MIRT1082205	hsa-miR-195	CLIP-seq
MIRT1082206	hsa-miR-3135b	CLIP-seq
MIRT1082207	hsa-miR-3174	CLIP-seq
MIRT2252201	hsa-miR-3659	CLIP-seq
MIRT1082209	hsa-miR-3689d	CLIP-seq
MIRT1082210	hsa-miR-424	CLIP-seq
MIRT1082211	hsa-miR-4487	CLIP-seq
MIRT1082212	hsa-miR-4524	CLIP-seq
MIRT1082214	hsa-miR-4693-3p	CLIP-seq
MIRT1082216	hsa-miR-497	CLIP-seq
MIRT1082217	hsa-miR-503	CLIP-seq
MIRT1082219	hsa-miR-646	CLIP-seq
MIRT1082221	hsa-miR-921	CLIP-seq
MIRT2389671	hsa-miR-2467-3p	CLIP-seq
MIRT2389672	hsa-miR-3678-3p	CLIP-seq
MIRT2389673	hsa-miR-4447	CLIP-seq
MIRT2389674	hsa-miR-4472	CLIP-seq
MIRT2389675	hsa-miR-4481	CLIP-seq
MIRT2389676	hsa-miR-4745-5p	CLIP-seq
MIRT2389677	hsa-miR-591	CLIP-seq
MIRT2389678	hsa-miR-759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
REST	Repression	16209944

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	12198491, 18796614, 27092946, 32296183
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	29724949
GO:0005516	Function	Calmodulin binding	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15831468, 24591580, 26148990
GO:0005886	Component	Plasma membrane	IEA
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	9380751
GO:0006816	Process	Calcium ion transport	IDA	18796614
GO:0006884	Process	Cell volume homeostasis	IEA
GO:0006952	Process	Defense response	TAS	9407042
GO:0008076	Component	Voltage-gated potassium channel complex	IC	18796614
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	9380751
GO:0015269	Function	Calcium-activated potassium channel activity	IDA	18796614, 26148990
GO:0015269	Function	Calcium-activated potassium channel activity	IEA
GO:0015269	Function	Calcium-activated potassium channel activity	TAS	9380751
GO:0016020	Component	Membrane	IEA
GO:0016286	Function	Small conductance calcium-activated potassium channel activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	18796614
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IBA
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IDA	9326665, 9380751, 9407042, 10026195, 10961988, 11425865, 15831468, 17157250, 18796614, 26148990, 26418693
GO:0022894	Function	Intermediate conductance calcium-activated potassium channel activity	IEA
GO:0030322	Process	Stabilization of membrane potential	IDA	18796614
GO:0031982	Component	Vesicle	IDA	25468996
GO:0032587	Component	Ruffle membrane	IDA	24591580
GO:0032587	Component	Ruffle membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	29953543
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043025	Component	Neuronal cell body	IBA
GO:0044351	Process	Macropinocytosis	IDA	24591580
GO:0045332	Process	Phospholipid translocation	IEA
GO:0046541	Process	Saliva secretion	IEA
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IDA	18796614
GO:0051049	Process	Regulation of transport	IEA
GO:0051289	Process	Protein homotetramerization	IDA	29724949
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9326665, 9380751, 9407042, 10026195, 10961988, 11425865, 15831468, 17157250, 18796614, 26148990, 26418693
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	TAS
GO:1905664	Process	Regulation of calcium ion import across plasma membrane	IDA	17157250, 18796614, 26418693

Other IDs

• MIM: 602754
• HGNC: 6293
• e!Ensembl: ENSG00000104783

Protein

• UniProt ID: O15554
• Protein name: Intermediate conductance calcium-activated potassium channel protein 4 (SKCa 4) (SKCa4) (hSK4) (Gardos channel) (IKCa1) (hIK1) (KCa3.1) (Putative Gardos channel) (hKCa4)
• Protein function: Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calc
• PDB: 6CNM, 6CNN, 6CNO, 6D42
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03530	SK_channel	11 → 124	Calcium-activated SK potassium channel	Family
  PF07885	Ion_trans_2	211 → 291	Ion channel	Family
  PF02888	CaMBD	304 → 375	Calmodulin binding domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in non-excitable tissues. {ECO:0000269|PubMed:9380751}.
• Sequence:

  MGGDLVLGLGALRRRKRLLEQEKSLAGWALVLAGTGIGLMVLHAEMLWFGGCSWALYLFL
  VKCTISISTFLLLCLIVAFHAKEVQLFMTDNGLRDWRVALTGRQAAQIVLELVVCGLHPA
  PVRGPPCVQDLGAPLTSPQPWPGFLGQGEALLSLAMLLRLYLVPRAVLLRSGVLLNASYR
  SIGALNQVRFRHWFVAKLYMNTHPGRLLLGLTLGLWLTTAWVLSVAERQAVNATGHLSDT
  LWLIPITFLTIGYGDVVPGTMWGKIVCLCTGVMGVCCTALLVAVVARKLEFNKAEKHVHN
  FMMDIQYTKEMKESAARVLQEAWMFYKHTRRKESHAARRHQRKLLAAINAFRQVRLKHRK
  LREQVNSMVDISKMHMILYDLQQNLSSSHRALEKQIDTLAGKLDALTELLSTALGPRQLP
  EPSQQSK

• Sequence length: 427

Pathways

KEGG:

Insulin secretion
GnRH secretion
Salivary secretion
Protein digestion and absorption

Reactome:

Ca2+ activated K+ channels

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
Dehydrated hereditary stomatocytosis 2	Pathogenic; Likely pathogenic	rs774455945, rs1057519076, rs1057519077	RCV000412510 RCV000412590 RCV000412652	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Pathogenic	rs1969582489	RCV001352675	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNN4-related disorder	Benign; Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 5	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XEROCYTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XEROCYTOSIS, HEREDITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35931864	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	23904164	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	28496185	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31352162		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29050937, 30826748		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	31684854		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28683532		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	23904164	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	23609438, 28126850	Associate	★☆☆☆☆ Found in Text Mining only
Brachial Plexus Neuritis	Brachial plexus neuralgia	BEFREE	28618294		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27124117		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	14983485, 27124117, 27183905, 28216417, 34946556, 40513964	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39614330	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23609438, 9439149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35718101	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27494181	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35068444	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25848765, 28975890, 35983409	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25957568		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19644414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	BEFREE	28496185		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	31197180	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	10723572	Associate	★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	12626747		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23572150, 24885636, 29161243		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14687025, 21097699, 24885636, 37328854, 8030745, 8932328, 9342373	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	14983485	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	26081581	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29574723		★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	29242028	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Dysostosis	Craniofacial Dysostosis	BEFREE	30642732		★☆☆☆☆ Found in Text Mining only
Craniofacial dysostosis type 1	Craniofacial Dysostosis	BEFREE	30642732		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	20407432		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	27329601	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21909392, 29915289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	21909392	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dehydrated hereditary stomatocytosis	Dehydrated Hereditary Stomatocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2	Dehydrated Hereditary Stomatocytosis	GENOMICS_ENGLAND_DG	26148990		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2	Dehydrated Hereditary Stomatocytosis	UNIPROT_DG	26148990, 26178367, 26198474		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2	Dehydrated Hereditary Stomatocytosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Hereditary xerocytosis	Pubtator	26198474, 28496185, 30187933, 30655378, 31091145, 35030515	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31162551		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31162551		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28611698		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	31684854		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	27487831	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	17310992		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	17310992		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36072903	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20808839	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	19570891	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	20407432		★☆☆☆☆ Found in Text Mining only
Heparin Cofactor II Deficiency	Heparin cofactor 2 deficiency	Pubtator	29242028	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	10493830		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26502942	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	29388859	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34526525	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21872912, 24392001, 25476248, 29321510	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26824610		★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	27487831	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31431469		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	14983485	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29090347		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25476248, 29321510	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	31197180	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27124117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	17310992		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29050937, 30826748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19270724		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	24185611		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23572150		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34445066	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19644414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	15746946, 27565211, 27716384		★☆☆☆☆ Found in Text Mining only
Neuralgic Amyotrophy	Neuralgic Amyotrophy	BEFREE	28618294		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25704182		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27270322, 28659615	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29050937, 30826748		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28611293, 9626054	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19270724		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30808854		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27346388	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29692361	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31337415		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	9439149	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28126850	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	32857728	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27124117	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28280257	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19644414		★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	40513964	Associate	★☆☆☆☆ Found in Text Mining only
Xerocytosis	Xerocytosis	GENOMICS_ENGLAND_DG	26148990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xerocytosis	Xerocytosis	ORPHANET_DG	26148990, 26198474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xerocytosis	Xerocytosis	BEFREE	26178367, 26198474, 27756835, 28496185, 31091145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xerocytosis	Xerocytosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations