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	359
Gene name	Aquaporin 2
Gene symbol	AQP2
Synonyms (NCBI Gene)	AQP-CDNDI2WCH-CD
Chromosome	12
Chromosome location	12q13.12
Summary	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931580	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894336	C>G	Pathogenic	Coding sequence variant, missense variant
rs772201159	AACTGGCCACAGGCCCTGCCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

122

Show/Hide all (122)

miRTarBase ID	miRNA	Experiments	Reference
MIRT491675	hsa-miR-4779	PAR-CLIP	23592263
MIRT491674	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT491673	hsa-miR-4734	PAR-CLIP	23592263
MIRT491672	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT491671	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT491670	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491669	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491668	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491666	hsa-miR-8085	PAR-CLIP	23592263
MIRT491667	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT491675	hsa-miR-4779	PAR-CLIP	23592263
MIRT491674	hsa-miR-6746-5p	PAR-CLIP	23592263
MIRT491673	hsa-miR-4734	PAR-CLIP	23592263
MIRT491672	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT491671	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT491670	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT491669	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT491668	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491666	hsa-miR-8085	PAR-CLIP	23592263
MIRT491667	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT791443	hsa-miR-1193	CLIP-seq
MIRT791444	hsa-miR-1252	CLIP-seq
MIRT791445	hsa-miR-1262	CLIP-seq
MIRT791446	hsa-miR-1273f	CLIP-seq
MIRT791447	hsa-miR-129-5p	CLIP-seq
MIRT791448	hsa-miR-1324	CLIP-seq
MIRT791449	hsa-miR-140-3p	CLIP-seq
MIRT791450	hsa-miR-143	CLIP-seq
MIRT791451	hsa-miR-181a	CLIP-seq
MIRT791452	hsa-miR-181b	CLIP-seq
MIRT791453	hsa-miR-181c	CLIP-seq
MIRT791454	hsa-miR-181d	CLIP-seq
MIRT791455	hsa-miR-1827	CLIP-seq
MIRT791456	hsa-miR-185	CLIP-seq
MIRT791457	hsa-miR-192	CLIP-seq
MIRT791458	hsa-miR-197	CLIP-seq
MIRT791459	hsa-miR-215	CLIP-seq
MIRT791460	hsa-miR-216a	CLIP-seq
MIRT791461	hsa-miR-216b	CLIP-seq
MIRT791462	hsa-miR-2355-5p	CLIP-seq
MIRT791463	hsa-miR-3127-5p	CLIP-seq
MIRT791464	hsa-miR-3134	CLIP-seq
MIRT791465	hsa-miR-3145-5p	CLIP-seq
MIRT791466	hsa-miR-3166	CLIP-seq
MIRT791467	hsa-miR-345	CLIP-seq
MIRT791468	hsa-miR-3653	CLIP-seq
MIRT791469	hsa-miR-3658	CLIP-seq
MIRT791470	hsa-miR-3919	CLIP-seq
MIRT791471	hsa-miR-3941	CLIP-seq
MIRT791472	hsa-miR-4262	CLIP-seq
MIRT791473	hsa-miR-4302	CLIP-seq
MIRT791474	hsa-miR-4306	CLIP-seq
MIRT791475	hsa-miR-4436b-3p	CLIP-seq
MIRT791476	hsa-miR-4477a	CLIP-seq
MIRT791477	hsa-miR-4534	CLIP-seq
MIRT791478	hsa-miR-4644	CLIP-seq
MIRT791479	hsa-miR-466	CLIP-seq
MIRT791480	hsa-miR-4672	CLIP-seq
MIRT791481	hsa-miR-4701-3p	CLIP-seq
MIRT791482	hsa-miR-4708-5p	CLIP-seq
MIRT791483	hsa-miR-4712-3p	CLIP-seq
MIRT791484	hsa-miR-4753-3p	CLIP-seq
MIRT791485	hsa-miR-4761-3p	CLIP-seq
MIRT791486	hsa-miR-4770	CLIP-seq
MIRT791487	hsa-miR-501-5p	CLIP-seq
MIRT791488	hsa-miR-555	CLIP-seq
MIRT791489	hsa-miR-582-5p	CLIP-seq
MIRT791490	hsa-miR-9	CLIP-seq
MIRT791491	hsa-miR-942	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933475	hsa-miR-2110	CLIP-seq
MIRT1933476	hsa-miR-3150a-3p	CLIP-seq
MIRT1933477	hsa-miR-3175	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933479	hsa-miR-4260	CLIP-seq
MIRT1933480	hsa-miR-4459	CLIP-seq
MIRT1933481	hsa-miR-4651	CLIP-seq
MIRT791482	hsa-miR-4708-5p	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933483	hsa-miR-4789-5p	CLIP-seq
MIRT1933484	hsa-miR-608	CLIP-seq
MIRT1933485	hsa-miR-665	CLIP-seq
MIRT1933486	hsa-miR-939	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT2173541	hsa-miR-1294	CLIP-seq
MIRT2173542	hsa-miR-1470	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT2173543	hsa-miR-2114	CLIP-seq
MIRT2173544	hsa-miR-342-5p	CLIP-seq
MIRT2173545	hsa-miR-3614-3p	CLIP-seq
MIRT2173546	hsa-miR-3684	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT2173547	hsa-miR-4264	CLIP-seq
MIRT2173548	hsa-miR-4450	CLIP-seq
MIRT2173549	hsa-miR-4533	CLIP-seq
MIRT1933481	hsa-miR-4651	CLIP-seq
MIRT2173550	hsa-miR-4664-5p	CLIP-seq
MIRT2173551	hsa-miR-4667-3p	CLIP-seq
MIRT2173552	hsa-miR-4710	CLIP-seq
MIRT2173553	hsa-miR-4747-5p	CLIP-seq
MIRT2173554	hsa-miR-4755-3p	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT791489	hsa-miR-582-5p	CLIP-seq
MIRT1933484	hsa-miR-608	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT2384342	hsa-miR-3612	CLIP-seq
MIRT2384343	hsa-miR-4443	CLIP-seq
MIRT2384344	hsa-miR-4717-5p	CLIP-seq
MIRT2384345	hsa-miR-4802-5p	CLIP-seq
MIRT2384346	hsa-miR-650	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq
MIRT1933473	hsa-miR-1207-5p	CLIP-seq
MIRT1933474	hsa-miR-1909	CLIP-seq
MIRT1933478	hsa-miR-3714	CLIP-seq
MIRT1933482	hsa-miR-4763-3p	CLIP-seq
MIRT1933487	hsa-miR-940	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	IEA
GO:0003091	Process	Renal water homeostasis	IMP	8140421
GO:0003091	Process	Renal water homeostasis	TAS
GO:0003097	Process	Renal water transport	IEA
GO:0005372	Function	Water transmembrane transporter activity	IDA	8584435, 9321919
GO:0005515	Function	Protein binding	IPI	25910212, 32176498, 32296183, 36117171
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9321919, 24733887
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8140421
GO:0005886	Component	Plasma membrane	TAS
GO:0006833	Process	Water transport	IBA
GO:0006833	Process	Water transport	IDA	8584435, 9321919
GO:0006833	Process	Water transport	IEA
GO:0006833	Process	Water transport	IMP	8140421
GO:0007015	Process	Actin filament organization	IMP	32176498
GO:0015168	Function	Glycerol transmembrane transporter activity	IDA	8584435
GO:0015250	Function	Water channel activity	EXP	9829975, 11076974
GO:0015250	Function	Water channel activity	IBA
GO:0015250	Function	Water channel activity	IEA
GO:0015250	Function	Water channel activity	IMP	8140421
GO:0015267	Function	Channel activity	IEA
GO:0015793	Process	Glycerol transmembrane transport	IDA	8584435
GO:0016020	Component	Membrane	IDA	22375059
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	15509592, 16928804
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030658	Component	Transport vesicle membrane	TAS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042631	Process	Cellular response to water deprivation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051289	Process	Protein homotetramerization	IDA	24733887
GO:0055037	Component	Recycling endosome	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289, 16501490
GO:0071280	Process	Cellular response to copper ion	IDA	8584435
GO:0071288	Process	Cellular response to mercury ion	IDA	8584435
GO:0072205	Process	Metanephric collecting duct development	IEA
GO:0098576	Component	Lumenal side of membrane	IEA

MIM	HGNC	e!Ensembl
107777	634	ENSG00000167580

P41181

Protein name

Aquaporin-2 (AQP-2) (ADH water channel) (Aquaporin-CD) (AQP-CD) (Collecting duct water channel protein) (WCH-CD) (Water channel protein for renal collecting duct)

Protein function

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:15509592, PubMed:7510718, PubMed:7524315

PDB

4NEF , 4OJ2 , 6QF5 , 8GCL , 8GHJ , 8OEE , 8VVX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00230	MIP	3 → 219	Major intrinsic protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in collecting tubules in kidney medulla (at protein level) (PubMed:7510718). Detected in kidney (PubMed:7510718). {ECO:0000269|PubMed:7510718}.

Sequence

MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALG
HISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNA
LSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTG
CSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGL
EPDTDWEEREVRRRQSVELHSPQSLPRGTKA

Sequence length

271

Interactions

View interactions

	KEGG		Reactome
	Vasopressin-regulated water reabsorption		Vasopressin regulates renal water homeostasis via Aquaporins Passive transport by Aquaporins

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diabetes insipidus	Likely pathogenic; Pathogenic	rs104894330	RCV004798738	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes insipidus, nephrogenic, autosomal	Likely pathogenic; Pathogenic	rs1303076207, rs1481158831, rs745861885, rs1337669269, rs755694590, rs752623874, rs370879515, rs104894328, rs104894329, rs1565636541, rs104894334, rs104894330, rs104894331, rs104894335, rs104894332 View all (16 more)	RCV005006039 RCV002507699 RCV002498061 RCV002052161 RCV002502089 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic diabetes insipidus	Likely pathogenic; Pathogenic	rs1481158831, rs1337669269, rs370879515, rs104894328, rs104894329, rs104894334, rs104894341, rs770810694, rs193922494, rs193922495, rs193922496, rs764380594	RCV004017885 RCV005607074 RCV001828217 RCV000029344 RCV005406751 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
AQP2-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARGININE VASOPRESSIN RESISTANCE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS, NEPHROGENIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS, NEPHROGENIC, 2, AUTOSOMAL	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (105)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acoustic Neuroma	Acoustic Neuroma	BEFREE	29436285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Nephrogenic Diabetes Insipidus	Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Nephrogenic Diabetes Insipidus	Diabetes Insipidus	BEFREE	9822111		★★★★★ ★☆☆☆☆ Found in Text Mining only
ADH-Resistant Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29474507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	14767016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	BEFREE	11832768, 28457803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bedwetting	Nocturnal enuresis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33494641, 35245343, 36117171, 36254092	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	10766399, 16093448, 28258576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30633816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	31490733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17763164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	17763164, 28736155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	29607712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28092112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29799470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	12050236, 15100362, 16361827, 17550212, 18040725, 18473191, 19461158, 20814834, 22427315, 23150186, 23950570, 26714855, 29478202, 29996815, 30784238, 8793791, 8882880, 9402087 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24129558, 30797506, 31153818, 31490733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	28750036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	BEFREE	15888562, 22252122, 22644838, 26714855, 30106630, 7537863, 7541187		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Insipidus	Diabetes Insipidus	LHGDN	16159898		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Insipidus	Diabetes insipidus	Pubtator	26714855	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	14599123, 14709855, 15100362, 16361827, 16845277, 17954951, 19293543, 19461158, 20733335, 22474537, 26180540, 26714855, 27117808, 29799470, 29996815 View all (5 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21934636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	LHGDN	12021537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28246612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	32130259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	26261083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	26180540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21715543, 31173216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	21715543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29524884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	22452789, 37223008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26358256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	33616622	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	33616622	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	36613675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	15458431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	26358256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	30651806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	28139295, 28407874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17654319, 17763164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15956775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29985655, 30009821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertonic dehydration	Hypertonic dehydration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	27418061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	29103957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16580609, 27156763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	16580609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27151922	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29602131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17763164, 28092112, 29449936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	17763164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28161696, 29357442, 30633816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17763164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	LHGDN	12631357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28092112, 28984014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	29474507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24643204, 26358256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31173216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28161696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	12208541, 20722976, 27509294, 29436285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16580609, 27156763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	10766399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Diseases, Secondary	Myocardial Diseases	CTD_human_DG	12145768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	10228154, 10477431, 11001488, 11297561, 11401515, 11536078, 11929850, 12191971, 12787389, 12897058, 14586738, 14599123, 14662748, 14767016, 15509592 View all (51 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	LHGDN	11536078, 11929850, 12050236, 12787389, 14662748, 15100362, 16825342, 16845277, 18519086		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	GENOMICS_ENGLAND_DG	15509592		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 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	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	10228154, 10435672, 10477431, 10770218, 11297561, 11401515, 11536078, 11793119, 11929850, 12191971, 12787389, 14599123, 14662748, 14709855, 14767016 View all (44 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type I	Nephrogenic Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type II	Nephrogenic Diabetes Insipidus	GENOMICS_ENGLAND_DG	11536078, 15509592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type II	Nephrogenic Diabetes Insipidus	UNIPROT_DG	12050236, 12191971, 15509592, 16120822, 16361827, 16845277, 19585583, 19701945, 24944815, 7524315, 8140421, 8882880, 9048343, 9302264, 9402087, 9550615, 9649557, 9745427 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type II	Nephrogenic Diabetes Insipidus	CTD_human_DG	16121255, 18653713, 18854434, 20374732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus, Type II	Nephrogenic Diabetes Insipidus	CLINVAR_DG	17192724, 19458121, 27641679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Syndrome of Inappropriate Antidiuresis	Nephrogenic Syndrome Of Inappropriate Antidiuresis	BEFREE	20631022, 31486901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	26261083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	26261083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	29607712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29472315	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	32130259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29524884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29524884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	30106630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29357442, 29602131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28092112, 30744167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10770218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	33494641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29449936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Tract Infections	Urinary tract infection	Pubtator	32779125	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	30488437		★★★★★ ★☆☆☆☆ Found in Text Mining only

AQP2 (aquaporin 2)