TRPC6 (transient receptor potential cation channel subfamily C member 6)

Gene

• Entrez ID: 7225
• Gene name: Transient receptor potential cation channel subfamily C member 6
• Gene symbol: TRPC6
• Synonyms (NCBI Gene): FSGS2, TRP6
• Chromosome: 11
• Chromosome location: 11q22.1
• Summary: The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this chann

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434390	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434391	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs121434392	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434393	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121434394	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434395	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145077205	C>A,G,T	Likely-benign, drug-response, benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs768210838	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs878853179	G>A	Drug-response	Non coding transcript variant, 3 prime UTR variant
rs878853180	A>G	Drug-response	Intron variant
rs878853181	C>A	Drug-response	Intron variant
rs878853182	G>A,T	Drug-response	Intron variant
rs878853183	G>C	Drug-response	Intron variant
rs878853184	A>G	Drug-response	Intron variant
rs878853185	T>C	Drug-response	Intron variant
rs878853186	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853187	G>A	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853188	A>G	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853189	A>G	Drug-response	Intron variant
rs878853190	A>G	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853191	A>G	Drug-response	Intron variant
rs878853192	T>A	Drug-response	Intron variant
rs878853193	G>C	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853194	A>T	Drug-response	Intron variant
rs878853195	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853196	A>G	Drug-response	Intron variant
rs878853197	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853198	A>T	Drug-response	Intron variant
rs878853199	A>G	Drug-response	Intron variant
rs878853200	C>A	Drug-response	Intron variant
rs878853201	A>G	Drug-response	Intron variant
rs878853202	A>G	Drug-response	Intron variant
rs878853203	A>G	Drug-response	Intron variant
rs878853204	T>A	Drug-response	Intron variant
rs878853205	G>A	Drug-response	Intron variant
rs878853206	A>G,T	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853207	A>G	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853208	G>T	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853209	C>T	Drug-response	Intron variant
rs878853210	A>G	Drug-response	Intron variant
rs1165923760	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1451194842	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555003819	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565206758	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565221486	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565221699	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1591517929	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022827	hsa-miR-124-3p	Microarray	18668037
MIRT1457256	hsa-miR-1289	CLIP-seq
MIRT1457257	hsa-miR-181a	CLIP-seq
MIRT1457258	hsa-miR-181b	CLIP-seq
MIRT1457259	hsa-miR-181c	CLIP-seq
MIRT1457260	hsa-miR-181d	CLIP-seq
MIRT1457261	hsa-miR-1909	CLIP-seq
MIRT1457262	hsa-miR-208a	CLIP-seq
MIRT1457263	hsa-miR-208b	CLIP-seq
MIRT1457264	hsa-miR-214	CLIP-seq
MIRT1457265	hsa-miR-2355-5p	CLIP-seq
MIRT1457266	hsa-miR-23a	CLIP-seq
MIRT1457267	hsa-miR-23b	CLIP-seq
MIRT1457268	hsa-miR-23c	CLIP-seq
MIRT1457269	hsa-miR-3151	CLIP-seq
MIRT1457270	hsa-miR-3192	CLIP-seq
MIRT1457271	hsa-miR-3617	CLIP-seq
MIRT1457272	hsa-miR-3619-5p	CLIP-seq
MIRT1457273	hsa-miR-3658	CLIP-seq
MIRT1457274	hsa-miR-383	CLIP-seq
MIRT1457275	hsa-miR-4262	CLIP-seq
MIRT1457276	hsa-miR-4447	CLIP-seq
MIRT1457277	hsa-miR-4450	CLIP-seq
MIRT1457278	hsa-miR-4472	CLIP-seq
MIRT1457279	hsa-miR-4487	CLIP-seq
MIRT1457280	hsa-miR-4530	CLIP-seq
MIRT1457281	hsa-miR-4717-3p	CLIP-seq
MIRT1457282	hsa-miR-4772-5p	CLIP-seq
MIRT1457283	hsa-miR-491-5p	CLIP-seq
MIRT1457284	hsa-miR-499-5p	CLIP-seq
MIRT1457285	hsa-miR-595	CLIP-seq
MIRT1457286	hsa-miR-641	CLIP-seq
MIRT1457287	hsa-miR-761	CLIP-seq
MIRT1457269	hsa-miR-3151	CLIP-seq
MIRT2137112	hsa-miR-329	CLIP-seq
MIRT2137113	hsa-miR-3607-3p	CLIP-seq
MIRT2137114	hsa-miR-362-3p	CLIP-seq
MIRT2137115	hsa-miR-3686	CLIP-seq
MIRT2137116	hsa-miR-3941	CLIP-seq
MIRT1457276	hsa-miR-4447	CLIP-seq
MIRT1457278	hsa-miR-4472	CLIP-seq
MIRT2137117	hsa-miR-4643	CLIP-seq
MIRT2137118	hsa-miR-466	CLIP-seq
MIRT2137119	hsa-miR-4672	CLIP-seq
MIRT2137120	hsa-miR-4789-3p	CLIP-seq
MIRT1457283	hsa-miR-491-5p	CLIP-seq
MIRT2137121	hsa-miR-603	CLIP-seq
MIRT1457273	hsa-miR-3658	CLIP-seq
MIRT2357913	hsa-miR-4436b-3p	CLIP-seq
MIRT2357914	hsa-miR-4761-3p	CLIP-seq
MIRT2357915	hsa-miR-562	CLIP-seq
MIRT2357916	hsa-miR-587	CLIP-seq
MIRT2357917	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IDA	19936226, 23291369
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IDA	9930701
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IMP	26892346
GO:0005262	Function	Calcium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	15757897, 23171048
GO:0005737	Component	Cytoplasm	IDA	23171048
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10998353, 23291369
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9930701
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	TAS	9930701
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007338	Process	Single fertilization	IBA
GO:0015279	Function	Store-operated calcium channel activity	IBA
GO:0015279	Function	Store-operated calcium channel activity	IEA
GO:0016020	Component	Membrane	IDA	23171048
GO:0016020	Component	Membrane	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0032414	Process	Positive regulation of ion transmembrane transporter activity	IDA	10998353
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IBA
GO:0036057	Component	Slit diaphragm	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	23291369
GO:0042805	Function	Actinin binding	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0050774	Process	Negative regulation of dendrite morphogenesis	IEA
GO:0051117	Function	ATPase binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	10998353
GO:0055085	Process	Transmembrane transport	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IDA	14505576
GO:0071456	Process	Cellular response to hypoxia	IEA

Other IDs

• MIM: 603652
• HGNC: 12338
• e!Ensembl: ENSG00000137672

Protein

• UniProt ID: Q9Y210
• Protein name: Short transient receptor potential channel 6 (TrpC6) (Transient receptor protein 6) (TRP-6)
• Protein function: Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369, PubMed:26892346, PubMed:9930701). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine k
• PDB: 5YX9, 6UZ8, 6UZA, 7A6U, 7DXF, 7DXG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	102 → 191	Ankyrin repeats (3 copies)	Repeat
  PF08344	TRP_2	253 → 315	Transient receptor ion channel II	Family
  PF00520	Ion_trans	441 → 739	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. {ECO:0000269|PubMed:15924139}.
• Sequence:

  MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGS
  DNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEE
  CHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAI
  LSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLR
  KGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALEL
  SNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGR
  PNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFL
  ALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNA
  KQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAAS
  FIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYA
  IAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYI
  GAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLL
  NMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKL
  KKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSS
  EDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLE
  EKSQNTEDLAELIRELGEKLSMEPNQEETNR

• Sequence length: 931

Pathways

KEGG:

cGMP-PKG signaling pathway
Axon guidance

Reactome:

Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
TRP 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
Focal segmental glomerulosclerosis	Likely pathogenic	rs1218485537	RCV002294624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis 2	Pathogenic; Likely pathogenic	rs1591517912, rs121434390, rs121434392, rs121434394, rs121434395, rs869025541, rs2497277601, rs2497323385, rs2496173240, rs2497337197, rs2496173855, rs2496224973, rs2496225413, rs2497277391, rs1451194842, rs1858816064, rs1858816107, rs1860201767	RCV002489901 RCV000006526 RCV000006528 RCV000006530 RCV000006531 RCV001336716 RCV003236648 RCV003314356 RCV003337973 RCV004577599 RCV004577600 RCV004577601 RCV004547352 RCV004555415 RCV001029759 RCV001281330 RCV001281329 RCV001391126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs1591517912, rs121434394, rs869025541, rs1860201767	RCV001849651 RCV001328174 RCV000208455 RCV001328109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRPC6-related disorder	Pathogenic; Likely pathogenic	rs1591517912, rs121434394, rs869025541	RCV003401759 RCV004751205 RCV003422116	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC FATIGUE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	drug response; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prednisolone response	drug response; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31310676		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	31576025		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26581893, 28696436		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25801675		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27317689	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25801675		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	37552395	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25385366		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25385366		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37552395	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25642983		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	CTD_human_DG	21059368		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30321616		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18452628	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30321616, 35882306	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27011063	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29321518	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29321518		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	23171048	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28400714, 31369718, 31784544		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23663351, 24551085		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26084930, 31099508		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19843708		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30216703		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28983729		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	17099778, 17382525, 28645743, 28790356		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23700295, 31022353		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	25647156		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	20203293, 25477137		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17699555, 21525431, 31222503, 31778750		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17699555, 21525431, 31222503, 31778750		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18258814, 20068131	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24551085	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29923767, 30665563, 30665571, 30953689		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24551085, 30664212		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21868397, 29288897, 29793963, 29923767, 30664212, 30665563, 30665571, 31115705, 31118506, 31552773		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	29204735		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34337010	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30134548		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30134548, 39689787	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29321518		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29268388		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29268388		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23224895, 27861908		★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	15358862, 19380626, 25603901	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27834303	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	15879175, 16290061, 16628251, 17459670, 17530296, 19124028, 19129465, 19458060, 19936226, 20540633, 20685822, 20877463, 21471003, 21511817, 21734084, 21839714, 22280812, 22980509, 23291369, 23645677, 23689571, 23999069, 24194522, 25844902, 26084930, 26127002, 26147534, 28028935, 28629718, 28800680, 29752403, 30293571, 30595563, 30664212, 31171574, 31704171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	15879175, 15998650		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	GENOMICS_ENGLAND_DG	15879175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	26892346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	Focal segmental glomerulosclerosis	UNIPROT_DG	15879175, 15924139, 19458060, 19936226, 20798252, 21511817, 21734084, 22732337, 23014460, 23291369, 26892346		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	Focal segmental glomerulosclerosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	Focal segmental glomerulosclerosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	15879175		★☆☆☆☆ Found in Text Mining only
Focal Segmental Glomerulosclerosis, Not Otherwise Specified	Focal segmental glomerulosclerosis	BEFREE	17459670, 19458060, 19936226, 21734084, 23645677		★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	20028870		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26088448	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20028870		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18211288	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20028870, 20554944		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	20961851	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	25019165	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	17459670, 20961851, 21734084, 21839714, 29619864, 29785489		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	15924139, 19129465, 19936226, 20540633, 21426891, 23171048, 25019165, 28629718, 29138824, 31266804, 35300969, 36958215, 37615749, 39349897, 39999713	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	17099778, 17382525, 28645743, 28790356		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35882306	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria Benign Familial	Hematuria	Pubtator	29138824	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18452628	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG	26892346		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	16034470		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18258814		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18258814	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	21525431, 28790356, 30602386, 30665571		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	37552395	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30380548	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	23171048	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25569851, 25824146, 27861908, 28670316		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	15358862	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	29351410	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	25019165		★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	23999069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	16857972, 19380626, 22280812, 25603901, 28670316, 30468677		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	15358862, 16857972, 19380626, 22280812, 24920677, 28670316		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29204735		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	31827137	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31369718		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17167110, 19129465, 20877463, 21839714, 21868397, 23385000, 26084930, 27895156, 28028935, 28314576, 29312514, 29958896, 30282964, 30953689, 31028142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	19129465, 24196483, 26913924	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	GENOMICS_ENGLAND_DG	15879175		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17167110, 20395377, 26147534		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23663351, 24551085, 39999713	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30922260		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23663351, 24551085, 31099508		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	31022353		★☆☆☆☆ Found in Text Mining only
Lipoid nephrosis	Lipoid Nephrosis	BEFREE	22980509, 23663351		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27011063, 29500176		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	22280812, 25015075, 30779919		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23840757	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30384327		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30384327		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26531690, 30384327		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30384327		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30321616		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29268388		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20835261, 24418082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19610066, 29859875, 31308697		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18506892, 19610066, 22920441, 28030826, 29500176, 29859875		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	17167110, 20540633, 24194522		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	CTD_human_DG	21059368		★☆☆☆☆ Found in Text Mining only
Mental Disorders, Severe	Mental Disorders	CTD_human_DG	21059368		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28028935		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28756533		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28696436, 30684527		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	29187535		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	26913924	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11485933, 20028870, 20554944		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	30953689		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	30953689		★☆☆☆☆ Found in Text Mining only
Nephrosis	Nephrosis	BEFREE	29785489		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	28204945	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	22980509, 23663351	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	28204945		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	19936226, 20798252, 24196483, 28204945, 28921387, 35920919, 39349897	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	21511817, 22980509, 23657570, 28204945, 29785489, 30953689		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	23999069		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	15879175, 15924139		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30384327		★☆☆☆☆ Found in Text Mining only
Neuropsychiatric Systemic Lupus Erythematosus	Neuropsychiatric Systemic Lupus Erythematosus	BEFREE	26531690		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28030826		★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	25896763		★☆☆☆☆ Found in Text Mining only
Ovarian adenocarcinoma	Ovarian adenocarcinoma	BEFREE	22920441		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28696436		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31310676		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	19546862		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	3917500		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20835261, 24418082		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	19701218	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16489003, 19701218, 20835261, 21623387, 24418082	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	20540633, 23663351, 30380548, 31937884	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21364982		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	25603901, 30468677		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	25603901, 35968892	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36833211	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27932059		★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	BEFREE	21822655		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23700295, 31022353		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27979597, 28314576, 29312514, 29785489, 30953689, 31099508		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	19458060, 20877463, 21839714, 23385000, 24194522, 25844902, 27895156, 27979597, 28331185, 28877958, 30665571		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	19546862		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	18818211	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23497198		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23686700, 29268388		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23497198	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23497198		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28479396, 31683954		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	21511817, 21734084, 23999069, 26127002, 31529341		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29859875, 31308697		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	19610066		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33380424	Associate	★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	21734084		★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	39689787	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	35968892	Associate	★☆☆☆☆ Found in Text Mining only