Polycystic Kidney Disease malady

NIH Rare Diseases: Caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts. It may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. Age of onset is variable and mainly females are affected. The more common variant of this disease, Caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. Patients with Caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. Caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease. Caroli disease may be sporadic or autosomal dominant, whereas Caroli syndrome is generally transmitted in an autosomal recessive manner.³⁰

MalaCards: Polycystic Kidney Disease, also known as caroli disease, is related to polycystic kidney disease, autosomal recessive and polycystic kidney disease, autosomal dominant. An important gene associated with Polycystic Kidney Disease is PKD1 (polycystic kidney disease 1 (autosomal dominant)), and among its related pathways are EGFR Inhibitor Pathway, Pharmacodynamics and Signal transduction_PTEN pathway. The compounds glucose and carbachol have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and monocytes, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Genetics Home Reference: Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.¹⁷

Wikipedia: Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic...⁴⁴ more...

Aliases & Descriptions:

polycystic kidney disease 6 7 44 17 8 caroli disease 6 30 43 polycystic kidney diseases 32 43 congenital polycystic dilatation of intrahepatic bile ducts 30 cystic dilatation of the intrahepatic biliary tree 30 polycystic kidney and hepatic disease 1 6

paroxysmal kinesigenic choreoathetosis 43 congenital biliary ectasias 6 neonatal hemochromatosis 43 caroli disease isolated 30 carolis disease 32 pkd 17

Disease types for polycystic kidney disease family:

polycystic kidney disease 2

Diseases related to polycystic kidney disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 965)

id	Related Disease	Score	Top Affiliating Genes
1	polycystic kidney disease, autosomal recessive	36.6	PIK3C2A, LGALS3, AVPR2, IFT88, CAMP, HNF1B
2	polycystic kidney disease, autosomal dominant	35.0	REN, PCSK2, BRAF, MYC, RAF1, SCT
3	hypertension	34.6	REN, GNB3, NOS3, ACE, AGT, AGTR1
4	polycystic kidney disease 2, autosomal dominant	34.6	PKD1, PKD1L3, PKD2, PKD2L1, PKD2L2, PKD3
5	polycystic kidney disease 1, autosomal dominant	33.9	PKD1, PKD1P1, PKD1P2, PKD1P3, PKD1P4, PKD1P5
6	polycystic liver disease	33.4	SEC63, PKD1, PKD2, PKHD1, PRKCSH
7	nephronophthisis	32.5	UMOD, PKD1, PKD2
8	cystic kidney	31.8	UMOD, INVS, HNF1B, PKD1, PKD2, PKHD1
9	situs inversus	31.4	KIF3A, INVS, PKD1L1, PKD2, DNAAF1, NPHP1
10	tuberous sclerosis, type 2	31.3	NTN3, RPL3L, RNPS1, E4F1, TSC2
11	polycystic kidney and hepatic disease	31.0	TRAM2, PLXNC1, PKHD1, PKHD1L1
12	erythrocytosis	30.9	REN, VHL, NOS3, ACE, HBA2, HIF1A
13	tuberous sclerosis	30.6	VHL, VEGFA, MYC, MTOR, MMP2, INS
14	retinal degeneration	30.6	CLU, JUN, GNB3, TMEM67, PKD1, PKD2
15	marfan syndrome	30.1	MMP2, FBN1, FBN2, PKD1, EGF, AGTR1
16	abdominal aortic aneurysm	29.7	MMP2, MMP9, FBN1, CCL2, CST3
17	congenital heart defect	29.3	PIK3C2A, CLU, BDKRB2, MAPK10, HMOX1, HMGCR
18	mayer-rokitansky-kuster-hauser syndrome	29.3	VHL, CFTR, INS, INSR, FBN1, GNB3
19	congenital bilateral absence of vas deferens	29.0	CFTR, EDNRA, TGFB1
20	muscular dystrophy	29.0	PIK3C2A, VEGFA, LAMA5, LAMB1, CDKN1A, MMP2
21	bronchiectasis	28.8	CFTR, CD79A, MMP9, ALB, HMOX1, HLA-B
22	cutaneous leishmaniasis	28.6	PIK3C2A, FLI1, MAPK1, CCL2, TNF, PKD2L1
23	intracranial aneurysm	28.6	REN, VEGFA, ITGA2, MMP2, MMP9, FBN2
24	hearing loss	28.4	LRP2, KIAA1109, PAX2, ITGA1, FGFR2, CASP3
25	intestinal pseudo-obstruction	28.3	CFTR, ALB, TNF, SST, EDNRB
26	haemophilus influenzae	28.1	BAMBI, MAPK1, ALB, HLA-B, TNF, PTGS2
27	congenital diaphragmatic hernia	28.1	LRP2, VHL, FGF7, HMOX1, TNF, NOS3
28	cleft lip	27.8	RARA, MSX2, CD79A, MMP9, FGF7, FGFR2
29	hemochromatosis	27.8	REN, LCN2, CFTR, INS, CCL2, ALB
30	otitis media	27.5	PARP1, CD79A, MMP2, MMP9, ALB, TNF
31	von hippel-lindau disease	27.4	REN, VHL, VEGFA, RAF1, CLU, EZR
32	cerebral aneurysms	27.3	REN, MMP2, MMP9, CCL2, HMOX1, TNF
33	gout	27.0	SELE, BRAF, UMOD, MTOR, LAMA5, CD79A
34	pancreatic cancer	26.7	VEGFA, RAF1, SCT, LGALS3, CDKN1A, FGFR2
35	coronary artery anomaly	26.7	PIK3C2A, SELE, ITGA2, MMP9, INS, INSR
36	leprosy	26.2	CD79A, MAPK3, MAPK1, CCL2, ALB, ERBB2
37	cystic fibrosis	26.1	REN, VEGFA, KCNN4, SCT, UMOD, CFTR
38	leishmaniasis	25.8	PIK3C2A, JUN, MMP9, FOS, FLI1, MAPK3
39	aldosteronism	25.3	REN, VEGFA, RAF1, BDKRB2, AVPR2, JUN
40	glioblastoma	25.0	VHL, VEGFA, PARP1, MTOR, CDKN1A, MMP2
41	breast cancer	25.0	VEGFA, MMP2, MMP9, FGFR2, MAP3K1, ERBB2
42	huntington's disease	24.9	PARP1, CD79A, FGFR2, AQP1, CASP3, AKT1
43	aortic aneurysm	24.8	PIK3C2A, REN, SELE, VEGFA, LCN2, CD79A
44	nephropathy	24.8	LRP2, REN, SELE, VEGFA, RARA, CLEC12A
45	connective tissue disease	24.3	PIK3C2A, SELE, CD79A, INS, FBN1, FBN2
46	end stage renal failure	24.1	VEGFA, BDKRB1, UMOD, CD79A, INS, ENPP1
47	type 2 diabetes mellitus	23.9	PIK3C2A, REN, SELE, VEGFA, CLU, CFTR
48	influenza	23.9	PIK3C2A, RARA, RAF1, UMOD, LCN2, BAMBI
49	meningitis	23.9	PIK3C2A, SELE, VEGFA, PARP1, BAMBI, CD79A
50	thrombosis	23.7	PIK3C2A, REN, SELE, VHL, VEGFA, RARA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to polycystic kidney disease:

²²

MGI Mouse Phenotypes related to polycystic kidney disease:

²⁵ (show all 29)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.8	LRP2, PCSK2, BICC1, PAX2, BDKRB2, KCNN4
2	respiratory system phenotype	MP:0005388	10.8	LRP2, KIF3A, CFTR, INSR, INVS, FBN1
3	hematopoietic system phenotype	MP:0005397	10.6	BRAF, VHL, MZF1, BDKRB2, KCNN4, LGALS3
4	craniofacial phenotype	MP:0005382	10.4	LRP2, KIF3A, BAMBI, LAMA5, CFTR, MSX2
5	other phenotype	MP:0005395	9.8	RARA, CLU, LAMA5, ITGA6, FBN1, ENPP1
6	embryogenesis phenotype	MP:0005380	9.7	KIF3A, KIF11, BRAF, VHL, MYC, RAF1
7	liver/biliary system phenotype	MP:0005370	9.0	VHL, VEGFA, BICC1, CFTR, ATF2, FLI1
8	normal phenotype	MP:0002873	9.0	REN, SELE, BRAF, VHL, VEGFA, MYC
9	limbs/digits/tail phenotype	MP:0005371	9.0	KIF3A, VHL, VEGFA, RARA, BAMBI, MSX2
10	hearing/vestibular/ear phenotype	MP:0005377	8.9	LRP2, MYC, RARA, PARP1, PAX2, MSX2
11	renal/urinary system phenotype	MP:0005367	8.7	LRP2, REN, KIF3A, BRAF, VHL, RARA
12	behavior/neurological phenotype	MP:0005386	8.5	LRP2, REN, KIF3A, PCSK2, SELE, BRAF
13	mortality/aging	MP:0010768	8.3	PIK3C2A, REN, KIF3A, KIF11, PCSK2, SELE
14	immune system phenotype	MP:0005387	8.3	REN, BRAF, MZF1, RARA, RAF1, CLU
15	pigmentation phenotype	MP:0001186	8.3	BRAF, MYC, PAX2, MSX2, FGFR2, FBN1
16	nervous system phenotype	MP:0003631	8.2	REN, BRAF, MYC, RARA, RAF1, PARP1
17	reproductive system phenotype	MP:0005389	8.1	REN, KIF11, PCSK2, VHL, VEGFA, RARA
18	integument phenotype	MP:0010771	8.1	PCSK2, BRAF, VHL, MYC, RAF1, PARP1
19	no phenotypic analysis	MP:0003012	7.2	LRP2, VEGFA, MYC, PARP1, UGCG, CD79A
20	growth/size phenotype	MP:0005378	6.7	PIK3C2A, LRP2, REN, KIF3A, KIF11, SELE
21	adipose tissue phenotype	MP:0005375	6.5	PIK3C2A, BRAF, MYC, BDKRB2, UMOD, MTOR
22	tumorigenesis	MP:0002006	6.3	BRAF, VHL, MZF1, MYC, RARA, ATF2
23	skeleton phenotype	MP:0005390	6.1	LRP2, KIF3A, BRAF, VHL, VEGFA, MZF1
24	muscle phenotype	MP:0005369	5.6	REN, BRAF, VHL, VEGFA, MYC, RARA
25	digestive/alimentary phenotype	MP:0005381	5.3	LRP2, KIF3A, BRAF, VHL, VEGFA, MYC
26	vision/eye phenotype	MP:0005391	5.2	LRP2, KIF3A, SELE, BRAF, VEGFA, RARA
27	cellular phenotype	MP:0005384	4.3	LRP2, KIF3A, PCSK2, SELE, BRAF, VHL
28	cardiovascular system phenotype	MP:0005385	4.3	REN, KIF3A, PCSK2, SELE, BRAF, VHL
29	homeostasis/metabolism phenotype	MP:0005376	3.4	PIK3C2A, LRP2, REN, KIF3A, PCSK2, SELE

Articles related to polycystic kidney disease:

(show top 50)    (show all 436)

id	Title	Authors	Year	Affiliating Genes
1	Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. (22034641)	Bergmann C.... Zerres K.	2011	PKD1, PKD2, HNF1B
2	Polycystic kidney disease protein fibrocystin localiz es to the mitotic spindle and regulates spindle bipolarity. (20554582)	Zhang J.... Zhou J.	2010	PKHD1
3	Evidence for pathogenicity of atypical splice mutatio ns in autosomal dominant polycystic kidney disease. (19158373)	Wang K.... Pei Y.	2009	PKD1, PKD2
4	A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease. (18552856)	Li X.... Li R.	2008	TNF, PKD2, OPTN
5	Modifier effect of the Glu298Asp polymorphism of endothelial nitric oxide synthase gene in autosomal-dominant polycystic kidney disease. (18815450)	Stefanakis N.... Lamnissou K.	2008	NOS3
6	Morphological and functional features of hepatic cyst epithelium in autosomal dominant polycystic kidney disease. (18202196)	Alvaro D.... Gaudio E.	2008	IGF1R, GHR
7	Modern treatment of autosomal dominant polycystic kidney disease (19145940)	WoA8yniec W.... Rutkowski B.	2008	AVPR2
8	PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease. (17669261)	Yang J.... Xiao C.	2007	PKHD1
9	The influence of endothelin-A receptor gene polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy. (17706018)	Reiterova J.... Tesar V.	2007	EDNRA, EDN1
10	Endothelin B receptor blockade accelerates disease progression in a murine model of autosomal dominant polycystic kidney disease. (17202412)	Chang M.Y.... Ong A.C.	2007	EDNRB, EDNRA, EDN1
11	PKDB: Polycystic Kidney Disease Mutation Database--a gene variant database for autosomal dominant polycystic kidney disease. (17370309)	Gout A.M.... Ravine D.	2007	PKD1, PKD2
12	A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease. (16790509)	Shannon M.B.... Miner J.H.	2006	LAMA5
13	The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. (16567633)	Shillingford J.M.... Weimbs T.	2006	TSC2, ENPP1, PKD1
14	Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. (16437702)	Peces R.... Peces C.	2005	PRKCSH
15	Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat. (16207829)	Brown J.H.... Gauguier D.	2005	PKD1, PKD2, ANKS6
16	Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. (15696446)	Consugar M.B.... Harris P.C.	2005	PKHD1
17	Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). (16199545)	Bergmann C.... Zerres K.	2005	PKHD1
18	Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). (16133180)	Losekoot M.... Peters D.J.	2005	PKHD1
19	Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2 (15300626)	Zhang W.L.... Mei C.L.	2004	PKD2
20	Therapies to slow polycystic kidney disease. (15361692)	Torres V.E.	2004	MAPK1
21	PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease. (14993477)	Stekrova J.... Kohoutova M.	2004	PKD1, PKD2
22	New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. (15200508)	Zerres K.... Bergmann C.	2004	PKHD1
23	No effect of angiotensin-converting enzyme gene polymorphism on disease progression and left ventricular hypertrophy in autosomal dominant polycystic kidney disease. (14600431)	Ecder T.... Schrier R.W.	2003	ACE
24	A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. (12846734)	Rossetti S.... Harris P.C.	2003	PKHD1
25	Structure-function relationships of the extracellular domain of the autosomal dominant polycystic kidney disease-associated protein, polycystin-1. (12633844)	Weston B.S.... Price R.G.	2003	ENPP1
26	Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease. (13679477)	Persu A.... Devuyst O.	2003	ACE, ADD1
27	Variable renal disease progression in autosomal dominant polycystic kidney disease: a role for nitric oxide? (12832751)	Devuyst O.	2003	NOS3
28	Impaired endocytosis may represent an obstacle to gene therapy in polycystic kidney disease. (11841627)	Witzgall R.... ObermA1ller N.	2002	ALB
29	Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations. (12482949)	Qian F.... Germino G.G.	2002	PKD1
30	Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel. (11252306)	Gonzalez-Perrett S.... Cantiello H.F.	2001	PKD2
31	Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice. (10618398)	Upadhya P.... Barker J.E.	2000	NEK1
32	A 1-Mb BAC/PAC-based physical map of the autosomal recessive polycystic kidney disease gene (PKHD1) region on chromosome 6. (10198164)	Park J.H.... Somlo S.	1999	PKHD1
33	A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. (10517638)	Barr M.M.... Sternberg P.W.	1999	PKD2
34	Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease. (9949210)	Koptides M.... Constantinou Deltas C.	1999	PKD1, PKD2, PKD3
35	A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. (10417277)	Torra R.... Darnell A.	1999	PKD1, PKD2, PKD3
36	Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue. (10362797)	Ong A.C.... Harris P.C.	1999	PKD1, PKD2
37	Identification of a novel PKD1 mutation in an Irish a utosomal dominant polycystic kidney disease kindred. (9765984)	Tighe O.... Croke D.T.	1998	PKD1
38	Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1. (9921908)	Koptides M.... Deltas C.C.	1998	PKD1
39	A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease. (9399046)	Longa L.... Migone N.	1997	TSC2, PKD1
40	Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease. (9291178)	Baboolal K.... Williams J.D.	1997	ACE
41	Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. (8643665)	Ward C.J.... Harris P.C.	1996	PKD1
42	Epidermal growth factor ameliorates autosomal recessive polycystic kidney disease in mice. (7781894)	Gattone V.H.... Cowley B.D.	1995	EGF, ALB
43	Insertional mutagenesis and molecular analysis of a new gene associated with polycystic kidney disease. (8608416)	Yoder B.K.... Woychik R.P.	1995	IFT88
44	The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. (8069919)		1994	PKD1
45	Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. (7920664)	Zerres K.... von Muhlendahl K.E.	1994	PKHD1
46	Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. (8191288)	Moyer J.H.... Woychik R.P.	1994	IFT88
47	A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region. (8307582)	Weinstat-Saslow D.L.... Reeders S.T.	1993	TBL3
48	Polycystic kidney disease: primary extracellular matrix abnormality or defective cellular differentiation? (8433548)	Calvet J.P.	1993	COL4A1, LAMB1
49	The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. (1577479)	Germino G.G.... Reeders S.T.	1992	PKD1, DNASE1L2
50	CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. (1709739)	Gillespie G.A.J.... Reeders S.T.	1991	ATP6V0C

Genes related to polycystic kidney disease according to GeneCards:

(show top 50)    (show all 215)

id	Symbol	Description	Score	GeneCards Section Context
1	PKD1	polycystic kidney disease 1 (autosomal dominant)	11.1	Publications, Orthologs, Domains & Families, Aliases & Descriptions (show all 6 sections) Transcripts, Summaries
2	PKD2	polycystic kidney disease 2 (autosomal dominant)	11.1	Aliases & Descriptions, Domains & Families, Orthologs, Summaries (show all 7 sections) Databases, Transcripts, Publications
3	IFT88	intraflagellar transport 88 homolog (Chlamydomonas)	11.1	Summaries, Aliases & Descriptions, Publications
4	PKDREJ	polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)	11.1	Transcripts, Publications, Aliases & Descriptions, Proteins (show all 5 sections) Orthologs
5	PKD2L1	polycystic kidney disease 2-like 1	11.1	Orthologs, Functions, Publications, Transcripts (show all 6 sections) Aliases & Descriptions, Domains & Families
6	PKHD1	polycystic kidney and hepatic disease 1 (autosomal recessive)	11.1	Publications, Summaries
7	PKD2L2	polycystic kidney disease 2-like 2	11.1	Publications, Aliases & Descriptions, Functions, Transcripts (show all 6 sections) Proteins, Orthologs
8	PKD1L3	polycystic kidney disease 1-like 3	11.1	Publications, Transcripts, Aliases & Descriptions, Proteins (show all 5 sections) Orthologs
9	HAX1	HCLS1 associated protein X-1	11.1	Summaries, Publications
10	PKD1L1	polycystic kidney disease 1 like 1	11.1	Orthologs, Aliases & Descriptions, Transcripts, Publications (show all 5 sections) Proteins
11	PKD1L2	polycystic kidney disease 1-like 2	11.1	Proteins, Orthologs, Aliases & Descriptions, Transcripts (show all 5 sections) Publications
12	PKDTS	polycystic kidney disease, infantile severe, with tuberous sclerosis	11.1	Aliases & Descriptions
13	PKD3	polycystic kidney disease 3 (autosomal dominant)	11.1	Publications, Aliases & Descriptions
14	PKD1P5	polycystic kidney disease 1 (autosomal dominant) pseudogene 5	11.1	Publications, Aliases & Descriptions
15	PKD1P4	polycystic kidney disease 1 (autosomal dominant) pseudogene 4	11.1	Aliases & Descriptions, Publications
16	PKD1P3	polycystic kidney disease 1 (autosomal dominant) pseudogene 3	11.1	Publications, Aliases & Descriptions
17	PKD1P6	polycystic kidney disease 1 (autosomal dominant) pseudogene 6	11.1	Publications, Aliases & Descriptions
18	PKD1P2	polycystic kidney disease 1 (autosomal dominant) pseudogene 2	11.1	Publications, Aliases & Descriptions
19	PKD1P1	polycystic kidney disease 1 (autosomal dominant) pseudogene 1	11.1	Transcripts, Publications, Aliases & Descriptions
20	NEK8	NIMA (never in mitosis gene a)- related kinase 8	11.1	Summaries
21	GFER	growth factor, augmenter of liver regeneration	11.1	Summaries
22	NEK1	NIMA (never in mitosis gene a)-related kinase 1	11.1	Summaries, Publications
23	KIF11	kinesin family member 11	11.1	Summaries
24	KIAA0319	KIAA0319	11.0	Summaries
25	PDK2	pyruvate dehydrogenase kinase, isozyme 2	11.0	Publications
26	NPHP3	nephronophthisis 3 (adolescent)	11.0	Publications
27	PRKCSH	protein kinase C substrate 80K-H	11.0	Publications
28	ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	11.0	Publications
29	TSC2	tuberous sclerosis 2	11.0	Publications
30	TSC1	tuberous sclerosis 1	11.0	Publications
31	CAMP	cathelicidin antimicrobial peptide	11.0	Publications
32	HNF1B	HNF1 homeobox B	11.0	Publications
33	INVS	inversin	11.0	Publications
34	HBA2	hemoglobin, alpha 2	11.0	Publications
35	UMOD	uromodulin	11.0
36	MTOR	mechanistic target of rapamycin (serine/threonine kinase)	11.0	Publications
37	VHL	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	11.0	Publications
38	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	11.0	Publications
39	PAX2	paired box 2	11.0
40	HSD17B12	hydroxysteroid (17-beta) dehydrogenase 12	11.0
41	ATF2	activating transcription factor 2	11.0	Publications
42	CLU	clusterin	11.0
43	GDNF	glial cell derived neurotrophic factor	11.0
44	MAPK10	mitogen-activated protein kinase 10	11.0	Publications
45	EGF	epidermal growth factor	11.0	Publications
46	PCSK2	proprotein convertase subtilisin/kexin type 2	11.0	Publications
47	EPO	erythropoietin	11.0	Publications
48	HGF	hepatocyte growth factor (hepapoietin A; scatter factor)	11.0
49	BRAF	v-raf murine sarcoma viral oncogene homolog B1	11.0	Publications
50	MAPK1	mitogen-activated protein kinase 1	11.0	Publications

Pathways related to polycystic kidney disease according to GeneDecks:

(show top 50)    (show all 354)

id	Pathway	Score	Top Affiliating Genes
1	EGFR Inhibitor Pathway, Pharmacodynamics34	10.8	HRAS
2	Signal transduction_PTEN pathway41	10.8	IGF1R, TSC2
3	ACE Inhibitor Pathway, Pharmacodynamics34	10.6	AGTR1, MAPK3, BDKRB2, BDKRB1
4	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	10.4	BDKRB1, TGFB1, REN, MAPK1, NOS3, ACE
5	Development VEGF signaling and activation10	9.7	MAPK3, SP1, SELE, FOS, AKT1, RAF1
6	Signal transduction PTEN pathway10	9.6	HRAS, EGF, AKT1, CASP3, IGF1R, MAPK1
7	Development VEGF signaling via VEGFR2 - generic cascades10	9.6	PRKD1, PRKD2, PRKD3, CCL2, NOS3, VEGFA
8	Renal cell carcinoma20	9.6	HGF, TGFA, HIF1A, HRAS, RAF1, MAPK3
9	Adipocytokines & Insulin Signaling37	9.5	BRAF, FOS, MTOR, INS, INSR, PRKD3
10	Transcription Receptor-mediated HIF regulation10	9.5	RAF1, IGF1R, MAPK1, INS, INSR, HIF1A
11	Development_VEGF signaling and activation41	9.5	SELE, RAF1, JUN, FOS, MAPK3, MAPK1
12	Integrin Pathway36	9.5	FBN1, FBN2, MAPK3, MAPK10, MAPK1, GNB3
13	Mucin expression in CF via TLRs, EGFR signaling pathways41	9.5	TGFA, RAF1, CFTR, ATF2, JUN, FOS
14	FAK1 Signaling36	9.4	FBN2, MAPK3, MAPK1, HRAS, AKT1, COL4A1
15	UPA-UPAR Pathway36	9.4	ITGA8, ITGA6, ITGA2, ITGA1, JUN, LAMB1
16	Focal adhesion20	9.4	ITGA6, ITGA2, ITGA1, JUN, LAMB1, LAMA5
17	GnRH Signaling36	9.3	PRKAR1A, JUN, ITGA1, ITGA2, ITGA6, ITGA8
18	Akt Signaling36	9.3	HGF, CCL26, TSC2, TSC1, GFER, AKT1
19	HGF Pathway36	9.3	FOS, RAF1, JUN, ITGA6, HGF, PTGS2
20	eNOS Signaling36	9.3	BDKRB1, BDKRB2, INSR, FGF7, FGFR2, AQP1
21	PTEN Pathway36	9.2	BRAF, LAMA5, LAMB1, ITGA1, ITGA2, ITGA6
22	ErbB signaling pathway20	9.2	CDKN1A, MAPK3, HRAS, AKT1, ERBB2, EGF
23	Development_VEGF signaling via VEGFR2 - generic cascades41	9.2	PRKD3, FOS, PRKD2, NOS3, PTGS1, VEGFA
24	Transcription_Receptor-mediated HIF regulation41	9.1	IGF1R, VEGFA, RAF1, MTOR, INSR, MAPK3
25	Rap1 Pathway36	9.0	FGF7, ITGA8, HGF, TGFB1, EGF, ERBB2
26	Ras Pathway36	9.0	FGF7, FGFR2, MAPK3, MAPK10, MAPK1, IGF1R
27	Endothelin-1 Signaling Pathway36	8.9	IGF1R, MAPK1, MAPK10, MAPK3, FGFR2, INSR
28	PPAR Pathway36	8.9	GFER, EGFR, TNF, AKT1, IGF1R, MAPK1
29	P2Y Receptor Signaling36	8.8	BRAF, MYC, RAF1, JUN, FOS, MAPK3
30	ErbB Family Pathway36	8.8	ERBB2, EGFR, TGFA, AKT1, HRAS, MAPK10
31	Renin-Angiotensin Pathway36	8.8	FGFR2, MAPK3, MAPK10, MAPK1, CCL2, IGF1R
32	Glioma20	8.8	EGF, EGFR, TP53, AKT1, HRAS, TGFA
33	Development_EGFR signaling pathway41	8.7	TGFA, AKT1, JUN, ERBB2, EGF, HRAS
34	Phospholipase-C Pathway36	8.7	GNAI1, GNB3, HGF, TGFB1, GFER, EGFR
35	Signaling Involved in Cardiac Hypertrophy36	8.7	JUN, ITGA1, ITGA2, ITGA6, ITGA8, INSR
36	Estrogen Pathway36	8.6	FGF7, FGFR2, MAPK3, MAPK10, MAPK1, IGF1R
37	ERK Signaling36	8.6	ITGA8, PRKAR1A, TGFB1, INSR, FGF7, FGFR2
38	GPCR Pathway36	8.6	MAPK3, ERBB2, FGF7, FGFR2, PRKAR1A, MAPK10
39	14-3-3 Induced Intracellular Signaling36	8.6	JUN, TGFB1, HRAS, TSC2, TSC1, RAF1
40	ILK Signaling36	8.5	LAMA5, LAMB1, ATF2, JUN, FOS, INSR
41	Bladder cancer20	8.5	BRAF, VEGFA, MYC, RAF1, CDKN1A, MMP2
42	JAK-STAT Pathway36	8.3	EGFR, AGT, AGTR1, GFER, TGFA, TGFB1
43	Prostate cancer20	8.2	RAF1, BRAF, TGFA, EGFR, EGF, TP53
44	Pancreatic Adenocarcinoma36	7.8	EGF, GFER, TGFA, TGFB1, HGF, EGFR
45	Rho Family GTPases36	7.4	TNF, COL4A1, COL14A1, EGF, EGFR, GFER
46	MAPK signaling pathway20	7.3	PRKX, BRAF, MYC, ATF2, RAF1, JUN
47	Molecular Mechanisms of Cancer36	7.0	MYC, RARA, RAF1, JUN, CDKN1A, CDC25A
48	Colorectal Cancer Metastasis36	7.0	EGFR, PRKAR1A, AKT1, EGF, PTGS2, TGFB1
49	Pathways in cancer20	6.9	MYC, HGF, TGFB1, TGFA, MMP9, MMP2
50	MAPK Signaling36	6.8	ITGA6, ERBB2, TP53, TNF, COL4A1, COL14A1

Compounds related to polycystic kidney disease according to GeneDecks:

(show top 50)    (show all 424)

id	Compound	Score	Top Affiliating Genes
1	glucose32	11.0	PCSK2, BRAF, VHL, CLEC12A, SCT, UMOD
2	carbachol32 9 9	12.6	SCT, CFTR, MAPK10, SST, CTSB
3	potassium32 9 18 9	13.4	PIK3C2A, REN, BRAF, VHL, KCNN4, SCT
4	atp32	9.9	PIK3C2A, KIF11, BRAF, CLU, PARP1, BDKRB2
5	calcium32 9 18 9	12.7	PIK3C2A, REN, PCSK2, BRAF, VHL, RARA
6	gnrh32	9.6	RAF1, CFTR, INS, MAP3K1, CCL2, AKT1
7	cyclic amp32 18	10.6	PCSK2, BRAF, BDKRB2, SCT, CFTR, AVPR2
8	manumycin32	9.6	RAF1, INSR, HRAS, DYT10, EGF, EGFR
9	captopril32 42 9 9	12.4	REN, BDKRB1, BDKRB2, CD79A, MMP2, ALB
10	nitric oxide32 9 18 9	12.4	REN, SELE, VHL, BDKRB1, BDKRB2, LGALS3
11	forskolin32 42 9 9	12.4	REN, BRAF, RAF1, BDKRB2, SCT, CFTR
12	losartan32 34 9 9	12.1	REN, SELE, BDKRB2, FOS, MAPK3, CCL2
13	rapamycin32 42	10.1	BRAF, VHL, VEGFA, RAF1, MTOR, CDC25A
14	calcitriol32 42 9 18 9	12.9	LRP2, REN, MYC, RARA, CLU, ATF2
15	pge232	8.9	REN, SELE, RAF1, BDKRB2, SCT, CFTR
16	ang ii32	8.8	REN, VEGFA, MAPK3, MAPK10, MAPK1, CCL2
17	rottlerin32 42	9.8	PARP1, JUN, MAPK1, MAP3K1, AKT1, HMOX1
18	mg 13232 42	9.8	MYC, RARA, PARP1, CFTR, JUN, CDKN1A
19	adenylate32	8.7	SELE, BDKRB2, SCT, CFTR, AVPR2, MMP9
20	phosphoinositide32	8.7	PIK3C2A, BRAF, RARA, RAF1, BDKRB1, BDKRB2
21	gefitinib32 34 9 9	11.6	VEGFA, MTOR, CDKN1A, MMP2, MMP9, INSR
22	oxygen32 18	9.5	PIK3C2A, CLU, PARP1, LGALS3, ATF2, JUN
23	histamine32 18	9.5	SELE, RAF1, BDKRB2, KCNN4, SCT, CD79A
24	suramin32 9 9	10.3	VEGFA, RAF1, CFTR, CD79A, FOS, FGF7
25	epinephrine32 9 18 9	11.3	PIK3C2A, REN, SELE, SCT, CFTR, CD79A
26	acetylcholine32 9 18 9	11.3	PIK3C2A, RAF1, SCT, CFTR, CD79A, INSR
27	lipid32	8.2	PIK3C2A, LRP2, PCSK2, SELE, BRAF, RARA
28	norepinephrine32 9 18 9	11.0	PIK3C2A, REN, SELE, SCT, CFTR, CD79A
29	ag 147832	8.0	RAF1, JUN, ITGA2, MMP2, MMP9, FOS
30	celecoxib32 42 34 9 18 9	12.9	REN, VEGFA, PARP1, CDKN1A, MMP2, MMP9
31	glutamate32	7.9	BRAF, CLU, BDKRB2, LGALS3, CFTR, CD79A
32	testosterone32 9 18 9	10.8	PIK3C2A, SELE, RARA, RAF1, CLU, SCT
33	sb 20358032 42	8.8	SELE, BRAF, VEGFA, PARP1, BDKRB1, CDKN1A
34	15-deoxy-delta-12,14-prostaglandin j232	7.7	VEGFA, MYC, JUN, CDKN1A, FOS, MAPK10
35	arginine32	7.7	PIK3C2A, REN, PCSK2, BRAF, RARA, BDKRB2
36	n acetylcysteine32	7.7	SELE, RAF1, CLU, CFTR, CD79A, CDKN1A
37	cysteine32	7.7	RARA, RAF1, CLEC12A, CLU, PARP1, BDKRB2
38	alanine32	7.4	PIK3C2A, SELE, BRAF, MYC, RARA, RAF1
39	ly29400232	7.2	PIK3C2A, SELE, VHL, VEGFA, RARA, JUN
40	paclitaxel32 34 9 9	10.0	KIF11, BRAF, VEGFA, MYC, RARA, RAF1
41	cyclosporin a32 42	7.8	PIK3C2A, MYC, RAF1, SCT, UGCG, MTOR
42	butyrate32	6.7	MYC, RARA, RAF1, CLU, LGALS3, CFTR
43	cisplatin32 34 9 9	9.6	PIK3C2A, BRAF, VEGFA, MYC, RAF1, CLU
44	herbimycin a32 42	7.5	SELE, MYC, RAF1, JUN, ITGA6, MMP2
45	lactate32	6.4	PIK3C2A, SELE, CLU, LGALS3, CD79A, MMP2
46	doxorubicin32 34 9 9	9.4	PIK3C2A, SELE, VEGFA, MYC, RAF1, CLU
47	pdtc32	6.2	SELE, RAF1, PARP1, JUN, CDKN1A, MMP2
48	retinoic acid32 42 18	8.1	LRP2, PCSK2, BRAF, MZF1, MYC, RARA
49	dexamethasone32 42 34 9 9	9.2	REN, PCSK2, VEGFA, MYC, RARA, RAF1
50	actinomycin d32	5.2	SELE, VHL, VEGFA, MYC, RARA, CLU

Cellular components related to polycystic kidney disease according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule basal body	GO:005932	10.9	PKHD1, PKD2, OFD1, CYS1, TMEM67, EZR
2	primary cilium	GO:072372	10.9	NEK8, NPHP3, PKHD1, UMOD, KIF3A
3	cilium	GO:005929	10.8	PKD2, PKD1, OFD1, IFT88, INVS, LRRC6
4	basolateral plasma membrane	GO:016323	10.2	PKD1, EGFR, TGFA, SLC4A1, SLC4A2, SLC12A2
5	extracellular matrix	GO:031012	10.1	COL14A1, COL4A1, HSD17B12, FBN1, FGFR2, LAMB1
6	platelet alpha granule lumen	GO:031093	9.9	HGF, TGFB1, EGF, ALB, CLU, VEGFA
7	caveola	GO:005901	9.8	NOS3, CTSB, PTGS2, HMOX1, MAPK1, MAPK3
8	membrane	GO:016020	9.4	PKD1L1, PKDREJ, EDNRA, EGFR, TSC1, TSC2
9	protein complex	GO:043234	9.1	PRKAR1A, TSC1, PTGS2, TP53, TRPC1, ALB
10	perinuclear region of cytoplasm	GO:048471	9.1	TGFA, OPTN, NPPA, ECE1, ADCY10, GAPDH
11	cytosol	GO:005829	8.6	RPL3L, RPL3, NOS3, CTSH, CUX1, OFD1
12	plasma membrane	GO:005886	7.5	PTGS1, PLXNC1, NOS3, PKD2, PKD2L1, PKDREJ
13	cytoplasm	GO:005737	7.2	PDK2, WWTR1, EDN1, EGFR, E4F1, HIF1A
14	extracellular space	GO:005615	7.0	EPO, HMOX1, TNF, SST, CTSH, CTSB
15	nucleus	GO:005634	6.2	SP1, NOS3, PKD1, PKD1P1, PFN3, RNPS1

Biological processes related to polycystic kidney disease according to GeneDecks:

(show top 50)    (show all 95)

id	Name	GO ID	Score	Top Affiliating Genes
1	kidney development	GO:001822	11.1	HNF1B, TSC1, AGTR1, AGT, PKHD1, REN
2	peptidyl-serine phosphorylation	GO:018105	11.0	PRKX, PRKD2, PRKD1, AKT1, MAP3K1, MAPK1
3	excretion	GO:007588	10.7	NPHP1, AGT, HMOX1, AQP3, AVPR2, AQP2
4	regulation of vasoconstriction	GO:019229	10.7	EDN1, AGT, ACE, AGTR1, ECE1, BDKRB2
5	cilium morphogenesis	GO:060271	10.6	NPHP3, IFT88, TMEM67, OFD1, WWTR1, DNAAF1
6	activation of MAPKK activity	GO:000186	10.5	RAF1
7	branching involved in ureteric bud morphogenesis	GO:001658	10.5	GDNF, PKD2, LAMA5, PAX2, MYC, AGT
8	fibroblast growth factor receptor signaling pathway	GO:008543	10.5	PRKAR1A, TSC2, AKT1, HRAS, MAPK1, MAPK3
9	regulation of sequence-specific DNA binding transcription factor activity	GO:051090	10.4	MAPK1, MAPK3, FOS, JUN, ATF2, HMOX1
10	regulation of blood pressure	GO:008217	10.2	NOS3, GNB3, REN, EDNRB, PTGS2, HMOX1
11	stress-activated MAPK cascade	GO:051403	10.1	AGT, MAPK3, MAPK1, JUN, ATF2, FOS
12	positive regulation of endothelial cell proliferation	GO:001938	10.0	PRKD1, PRKD2, HIF1A, CCL2, CCL26, JUN
13	positive regulation of blood vessel endothelial cell migration	GO:043536	10.0	PRKD2, PRKD1, VEGFA, TGFB1, AKT1
14	aging	GO:007568	10.0	EDNRA, NOS3, PTGS1, HMGCR, CCL2, AQP2
15	positive regulation of angiogenesis	GO:045766	9.9	MMP9, HMOX1, VEGFA, AQP1, CTSH, NOS3
16	positive regulation of cellular protein metabolic process	GO:032270	9.9	AGT, TGFB1, INS, AKT1, AGTR1
17	heart development	GO:007507	9.9	PKD1, PKD2, EDN1, EDNRA, TSC2, ECE1
18	axon guidance	GO:007411	9.7	MAPK3, FEZ2, ITGA2, ITGA1, LAMB1, RAF1
19	insulin receptor signaling pathway	GO:008286	9.7	FGF7, INSR, INS, ATP6V0C, MTOR, RAF1
20	positive regulation of epithelial cell proliferation	GO:050679	9.7	MYC, PAX2, TGFB1, EGFR, ERBB2, HRAS
21	epidermal growth factor receptor signaling pathway	GO:007173	9.6	PIK3C2A, TGFB1, PRKAR1A, TGFA, TSC2, EGFR
22	protein autophosphorylation	GO:046777	9.6	AKT1, ERBB2, MTOR, INSR, FGFR2, PRKX
23	activation of MAPK activity	GO:000187	9.6	GHR, HGF, TGFA, MAPK1, TNF, ITGA1
24	protein kinase B signaling cascade	GO:043491	9.5	PAX2, TNF, AKT1, TSC2, TGFB1, CCL2
25	anti-apoptosis	GO:006916	9.5	NOS3, TGFA, EPO, PAX2, VHL, HGF
26	cellular response to hypoxia	GO:071456	9.5	EPO, PTGS2, VHL, MTOR, VEGFA, BDKRB2
27	organ morphogenesis	GO:009887	9.5	TNF, BRAF, ITGA2, FLI1, MAPK3, CCL2
28	response to salt stress	GO:009651	9.5	BDKRB2, TP53, AQP2, AGT, TNF, EPO
29	angiogenesis	GO:001525	9.4	HIF1A, EGF, HMOX1, CCL2, FGFR2, MMP2
30	negative regulation of neuron apoptotic process	GO:043524	9.4	HMOX1, JUN, BRAF, GDNF, HIF1A, TGFA
31	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	9.4	AGT, TP53, MTOR, HGF, GHR, FGF7
32	positive regulation of DNA replication	GO:045740	9.3	EPO, EGFR, INS, IGF1R, INSR, JUN
33	induction of apoptosis by intracellular signals	GO:008629	9.3	MYC, TP53, AKT1, HRAS, CASP3, CDKN1A
34	signal transduction	GO:007165	9.3	PRKD1, OPTN, NPHP1, PRKAR1A, HIF1A, ERBB2
35	G-protein coupled receptor signaling pathway	GO:007186	9.1	BDKRB2, SST, GNAI1, EDN1, EDNRA, AKT1
36	positive regulation of cell migration	GO:030335	9.1	VEGFA, CTSH, LAMB1, IGF1R, EDN1, INS
37	positive regulation of mitosis	GO:045840	9.0	INS, INSR, EDN1, EGF, TNF, TGFA
38	blood coagulation	GO:007596	9.0	KIF3A, HGF, MAPK1, MAPK3, ITGA6, ITGA2
39	transforming growth factor beta receptor signaling pathway	GO:007179	9.0	CCL2, TGFB1, WWTR1, SP1, MYC, PARP1
40	positive regulation of protein phosphorylation	GO:001934	9.0	AKT1, INSR, MTOR, VEGFA, ERBB2, TGFB1
41	positive regulation of cell proliferation	GO:008284	9.0	MYC, FGFR2, INSR, INS, AVPR2, VEGFA
42	positive regulation of MAP kinase activity	GO:043406	8.8	TGFB1, EGFR, VEGFA, TNF, EDN1, ERBB2
43	positive regulation of apoptotic process	GO:043065	8.6	PTGS2, CLU, UBD, AGT, NOS3, TNF
44	positive regulation of nitric oxide biosynthetic process	GO:045429	8.6	EGFR, EDN1, PKD2, INS, INSR, AKT1
45	response to hypoxia	GO:001666	8.5	CCL2, ECE1, TGFB1, HIF1A, EDNRA, EDN1
46	MAPK cascade	GO:000165	8.2	RAF1, INS, MAPK3, MAPK1, CCL2, HRAS
47	negative regulation of cell proliferation	GO:008285	8.1	HRAS, VHL, RAF1, BDKRB2, TGFB1, MSX2
48	response to drug	GO:042493	8.0	AQP1, BDKRB2, TGFB1, CDKN1A, TNF, JUN
49	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.8	WWTR1, FGFR2, MYC, ITGA6, JUN, PAX2
50	negative regulation of apoptotic process	GO:043066	7.1	EPO, ITGA6, CDKN1A, MSX2, BDKRB2, PAX2

Molecular functions related to polycystic kidney disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:042803	9.0	PKD2, PDK2, WWTR1, TSC2, TGFB1, SLC4A1
2	enzyme binding	GO:019899	8.5	TP53, PTGS2, EGFR, HIF1A, HMOX1, AKT1
3	protein heterodimerization activity	GO:046982	8.3	PDK2, EGFR, HIF1A, AGTR1, TGFB1, ADD1
4	transcription regulatory region DNA binding	GO:044212	8.2	HIF1A, SP1, TNF, TP53, HNF1B, FOS
5	ATP binding	GO:005524	8.2	DNAH8, EGFR, PDK2, TP53, ERBB2, AKT1
6	protein binding	GO:005515	4.8	ETV7, OFD1, SP1, CTSH, CTTN, CTSB