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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	554
Gene name	Arginine vasopressin receptor 2
Gene symbol	AVPR2
Synonyms (NCBI Gene)	ADHRDI1DIRDIR3NDINDI1V2R
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that incl

Show/Hide all (43)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935496	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894747	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894748	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894749	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894750	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894751	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs104894752	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894753	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, non coding transcript variant
rs104894754	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894755	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894756	G>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894757	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs104894758	T>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894759	T>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs104894760	C>T	Not-provided, pathogenic	Coding sequence variant, intron variant, missense variant
rs104894761	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193922112	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs193922113	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs193922114	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs193922115	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs193922116	G>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922117	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs193922118	GCCGGAC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922119	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922120	GCT>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs193922121	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922122	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922123	C>A	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs781942628	G>-,GG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs781950164	A>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs796052096	A>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs878853079	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs886040961	C>-	Pathogenic	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs1057518723	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1064797077	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1557100304	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557100580	->TGGTGGGCATGTATGCCTCCTCCTACATGATCCTGGCCATGACGCTGGACCGCCACCGTGCCATCTGC	Pathogenic	Intron variant, stop gained, coding sequence variant, inframe indel
rs1557100594	TAC>-	Pathogenic, likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1557100917	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569545523	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569545567	A>G	Pathogenic	Splice acceptor variant, 3 prime UTR variant
rs1603282111	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603282342	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

Show/Hide all (17)

miRTarBase ID	miRNA	Experiments
MIRT2179161	hsa-miR-3714	CLIP-seq
MIRT2179162	hsa-miR-4323	CLIP-seq
MIRT2179163	hsa-miR-4476	CLIP-seq
MIRT2444509	hsa-miR-1207-5p	CLIP-seq
MIRT2444510	hsa-miR-1909	CLIP-seq
MIRT2444511	hsa-miR-4450	CLIP-seq
MIRT2444512	hsa-miR-4491	CLIP-seq
MIRT2444513	hsa-miR-4514	CLIP-seq
MIRT2444514	hsa-miR-4645-5p	CLIP-seq
MIRT2444515	hsa-miR-4657	CLIP-seq
MIRT2444516	hsa-miR-4667-5p	CLIP-seq
MIRT2444517	hsa-miR-4673	CLIP-seq
MIRT2444518	hsa-miR-4692	CLIP-seq
MIRT2444519	hsa-miR-4700-5p	CLIP-seq
MIRT2444520	hsa-miR-4763-3p	CLIP-seq
MIRT2444521	hsa-miR-4764-5p	CLIP-seq
MIRT2444522	hsa-miR-940	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001992	Process	Regulation of systemic arterial blood pressure by vasopressin	IBA
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IEA
GO:0003092	Process	Renal water retention	TAS	1303257
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	IBA
GO:0005000	Function	Vasopressin receptor activity	IDA	1534149, 9322919, 33664408, 33742150
GO:0005000	Function	Vasopressin receptor activity	IEA
GO:0005000	Function	Vasopressin receptor activity	TAS	8882880
GO:0005515	Function	Protein binding	IPI	12409230, 21056967, 23236378, 32296183
GO:0005768	Component	Endosome	IDA	14757828
GO:0005768	Component	Endosome	TAS	10858434
GO:0005783	Component	Endoplasmic reticulum	TAS	10880054
GO:0005794	Component	Golgi apparatus	TAS	10880054
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	33742150
GO:0005886	Component	Plasma membrane	IDA	14757828
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1303257, 10749568
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	10880054
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	1534149, 33742150
GO:0007190	Process	Activation of adenylate cyclase activity	TAS	9224808
GO:0007599	Process	Hemostasis	TAS	10880054
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9322919
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	8882880
GO:0021537	Process	Telencephalon development	IEA
GO:0030139	Component	Endocytic vesicle	IDA	14757828
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0032870	Process	Cellular response to hormone stimulus	IBA
GO:0034097	Process	Response to cytokine	IEA
GO:0035811	Process	Negative regulation of urine volume	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	14757828
GO:0070295	Process	Renal water absorption	IDA	19440390
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA

MIM	HGNC	e!Ensembl
300538	897	ENSG00000126895

P30518

Protein name

Vasopressin V2 receptor (V2R) (AVPR V2) (Antidiuretic hormone receptor) (Renal-type arginine vasopressin receptor)

Protein function

Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.

PDB

4JQI , 6NI2 , 6U1N , 7BB6 , 7BB7 , 7DF9 , 7DFA , 7DFB , 7DFC , 7DW9 , 7KH0 , 7R0C , 7R0J , 8GOC , 8I10 , 8JRU , 8JRV , 8WRZ , 8WU1 , 9BT8 , 9CX3 , 9CX9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	54 → 325	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Kidney.

Sequence

MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLA
ALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQM
VGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQ
RNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGP
SERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTT
ASSSLAKDTSS

Sequence length

371

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Vasopressin-regulated water reabsorption		Vasopressin-like receptors G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) ADORA2B mediated anti-inflammatory cytokines production

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 Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AVPR2-related disorder	Pathogenic; Likely pathogenic	rs2521150530, rs2521156768, rs2064966689	RCV003404265 RCV003412272 RCV003393958	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes insipidus, nephrogenic, X-linked	Likely pathogenic; Pathogenic	rs782806507, rs796052096, rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2148514762, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523 View all (25 more)	RCV002488389 RCV000186513 RCV000011582 RCV000011583 RCV000011584 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic diabetes insipidus	Likely pathogenic; Pathogenic	rs2148515160, rs2521161799, rs104894749, rs104894756, rs104894760, rs193922112, rs193922113, rs104894761, rs193922114, rs193922115, rs193922116, rs193922117, rs193922118, rs193922119, rs193922120, rs193922121, rs193922122, rs193922123 View all (3 more)	RCV002276249 RCV005245540 RCV000029393 RCV002509150 RCV000029388 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic syndrome of inappropriate antidiuresis	Likely pathogenic; Pathogenic	rs782806507, rs104894753, rs104894756, rs104894760, rs104894761, rs2521152920, rs2521151990, rs193922118, rs781950164	RCV002488389 RCV005049331 RCV001527658 RCV001535853 RCV000011601 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

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.
ARGININE VASOPRESSIN RESISTANCE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS, NEPHROGENIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS, NEPHROGENIC, 1, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROGENIC DIABETES INSIPIDUS, TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	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 (111)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Nephrogenic Diabetes Insipidus	Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
ADH-Resistant Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	19018784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	31027113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	19581284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	9332665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis, renal dysfunction, and cholestasis 1	Arthrogryposis, Renal Dysfunction, And Cholestasis	BEFREE	9332665		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17072747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney disease	BEFREE	17160262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azotemia	Azotemia	BEFREE	6189393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	23736674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37262067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CTD_human_DG	12145768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies, Primary	Cardiomyopathy	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	16093448, 18761325, 28258576, 7541187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	26908832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30284699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31616061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29879760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	CTD_human_DG	17218722		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17855158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	11026555, 11181969, 15129813, 16361827, 16502494, 17101063, 17115194, 17371330, 18323675, 19449677, 19461158, 19812297, 22427315, 23150186, 23950570 View all (17 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	12145768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	23736674, 29297709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic kidney	Cystic Kidney Disease	BEFREE	17160262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	15888562, 26795631, 28258576, 31630706, 7541187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	29991464, 35137152, 35865667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	10526945, 10648821, 11116139, 11868598, 1415251, 14709855, 16361827, 16502494, 16845277, 17101063, 17491025, 17954951, 18323675, 18489790, 19170711 View all (29 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	19170711, 29991464, 33882907, 35137152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15265369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28412033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28412033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29394883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10477148, 15129813, 15872203, 18584216, 20459358, 22386940, 22427315, 26077742, 26131744		★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	31019162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35880269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	28614813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19581284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29394883	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	12145768		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	23736674, 29297709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	671487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	14709855, 16502494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertonic dehydration	Hypertonic dehydration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	19581284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11916004, 16580609, 22965914, 27156763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28165501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27363974, 30284699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31585817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28251822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29665518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11916004, 16580609, 27156763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	10982813, 21890492, 30934776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30934776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35905688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11157998, 28194370, 28295194, 29158836, 29879760, 8626831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	10432391, 10694923, 10749568, 10770218, 10820167, 10820168, 11389590, 11476731, 11754100, 11916004, 12414899, 1303271, 1324225, 15129813, 1534150 View all (50 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	LHGDN	11754100, 11868598, 16825342, 16845277, 17101063, 17216256, 17389737, 18323675, 18726898		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic diabetes insipidus	Nephrogenic Diabetes Insipidus	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	GENOMICS_ENGLAND_DG	26828532		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	BEFREE	10432391, 10694923, 10749568, 10770218, 10820167, 10820168, 11389590, 11754100, 11793119, 11916004, 11920339, 12414899, 15129813, 15841479, 16093448 View all (54 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	UNIPROT_DG	10694923, 10770218, 11026555, 11232028, 11916004, 1303257, 1303271, 1356229, 16845277, 7560098, 7833930, 7984150, 7987330, 7999078, 8037205 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	GENOMICS_ENGLAND_DG	15872203, 26828532		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrogenic Diabetes Insipidus, Type II	Nephrogenic Diabetes Insipidus	CTD_human_DG	12414899, 14998935, 19703807, 19729836, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	UNIPROT_DG	15872203		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	GENOMICS_ENGLAND_DG	15872203, 26828532		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	BEFREE	17229917, 18622631, 18753429, 22154540, 26131744, 26715131, 30962325		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	ORPHANET_DG	17229917		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic syndrome of inappropriate antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	27350623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31285869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	17320357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	30446963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	19581284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30934776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	22952279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	30242840, 31117065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	26908832, 27339446, 27655350, 27856088, 27920153, 28166521, 28194573, 28218410, 29970015, 30578153, 30898339, 31000794, 31117065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	31516786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28295194		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31585817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28194370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27355191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15613460, 16043261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36998036	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	31651865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	23362144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	19581284		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	17318848		★★★★★ ★☆☆☆☆ Found in Text Mining only

AVPR2 (arginine vasopressin receptor 2)