MCID: PLY169
MIFTS: 45

Polycystic Liver Disease 1 with or Without Kidney Cysts

Categories: Genetic diseases, Gastrointestinal diseases, Liver diseases

Aliases & Classifications for Polycystic Liver Disease 1 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 1 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 1 with or Without Kidney Cysts 57
Polycystic Liver Disease 1 57 75 29
Pcld1 57 75
Isolated Polycystic Liver Disease 75
Liver Disease, Polycystic, Type 1 40
Polycystic Liver Disease 73
Cysts 44
Cyst 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
kidney cysts are usually incidental findings and do not cause significant renal diseaes


HPO:

32
polycystic liver disease 1 with or without kidney cysts:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Polycystic Liver Disease 1 with or Without Kidney Cysts

OMIM : 57 Polycystic liver disease-1 is an autosomal dominant condition characterized by the presence of multiple liver cysts of biliary epithelial origin. Although the clinical presentation and histologic features of polycystic liver disease in the presence or absence of autosomal dominant polycystic kidney disease (see, e.g., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014). (174050)

MalaCards based summary : Polycystic Liver Disease 1 with or Without Kidney Cysts, also known as polycystic liver disease 1, is related to dermoid cyst and meibomian cyst, and has symptoms including hepatosplenomegaly An important gene associated with Polycystic Liver Disease 1 with or Without Kidney Cysts is PRKCSH (Protein Kinase C Substrate 80K-H), and among its related pathways/superpathways is Cytoskeletal Signaling. Affiliated tissues include liver and kidney, and related phenotypes are renal cyst and abnormality of the nervous system

UniProtKB/Swiss-Prot : 75 Polycystic liver disease 1: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts.

Related Diseases for Polycystic Liver Disease 1 with or Without Kidney Cysts

Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 162)
# Related Disease Score Top Affiliating Genes
1 dermoid cyst 34.5 KRT20 KRT7 MUC1
2 meibomian cyst 33.9 KRT20 KRT7
3 polycystic liver disease 33.1 LRP5 PKD1 PKD2 PKHD1 PRKCSH SEC63
4 polycystic kidney disease 30.9 ENPP1 PKD1 PKD2 PKHD1
5 kidney disease 30.3 HNF1B MUC1 NPHP1 PKD1 PKD2 PKHD1
6 autosomal dominant polycystic kidney disease 30.2 HNF1B PKD1 PKD2 PKHD1 TSC1
7 polycystic kidney disease 2 with or without polycystic liver disease 30.2 HNF1B PKD1 PKD2 PKHD1 PRKCSH SEC63
8 polycystic kidney disease 1 with or without polycystic liver disease 30.1 ENPP1 PKD1 PKD2 PKHD1 PRKCSH TSC1
9 arachnoid cysts 12.4
10 ovarian cyst 12.4
11 megalencephalic leukoencephalopathy with subcortical cysts 1 12.4
12 bile duct cysts 12.3
13 tarlov cysts 12.3
14 aneurysmal bone cysts 12.3
15 breast cyst 12.3
16 cerebroretinal microangiopathy with calcifications and cysts 1 12.2
17 corpus luteum cyst 12.2
18 renal cysts and diabetes syndrome 12.2
19 bartholin's duct cyst 12.2
20 epidermoid brain cyst 12.2
21 thyroglossal duct cyst, familial 12.2
22 bronchogenic cyst 12.2
23 spinal intradural arachnoid cysts 12.2
24 urachal cyst 12.2
25 intracranial cysts 12.2
26 trichilemmal cyst 1 12.1
27 epidermoid cysts 12.1
28 pineal cyst 12.1
29 sacral nerve root cysts 12.1
30 popliteal cyst 12.1
31 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 12.1
32 parovarian cyst 12.1
33 tibia absent polydactyly arachnoid cyst 12.1
34 choroid plexus cyst 12.1
35 megalencephalic leukoencephalopathy with subcortical cysts 2a 12.0
36 solitary bone cyst 12.0
37 lymphatic malformations 11.1 PKD1 PKD2
38 multicystic dysplastic kidney 11.1 PKD1 PKD2
39 solid adenocarcinoma with mucin production 11.0 KRT7 MUC1
40 transitional meningioma 11.0 MUC1 PRKCSH
41 clear cell basal cell carcinoma 11.0 KRT17 KRT7
42 endosalpingiosis 11.0 KRT7 MUC1
43 bile duct mucoepidermoid carcinoma 11.0 KRT7 MUC1
44 middle ear adenoma 11.0 KRT7 MUC1
45 caroli disease 10.9 PKD1 PKHD1
46 malignant mixed mullerian tumor 10.9 KRT7 MUC1
47 nodular hidradenoma 10.9 KRT7 MUC1
48 large cell acanthoma 10.9 KRT17 KRT7
49 cutaneous leiomyosarcoma 10.9 ACTC1 MUC1
50 polycystic liver disease 2 with or without kidney cysts 10.9

Graphical network of the top 20 diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts:



Diseases related to Polycystic Liver Disease 1 with or Without Kidney Cysts

Symptoms & Phenotypes for Polycystic Liver Disease 1 with or Without Kidney Cysts

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
usually asymptomatic
abdominal distention due to mass effect of liver
multiple fluid-filled cysts throughout the liver
cysts of biliary epithelial origin
rare hemorrhage from cysts
more
Respiratory:
dyspnea due to mass effect of liver

Genitourinary Kidneys:
renal cysts, few (in some patients)

Neurologic Central Nervous System:
absence of cerebral aneurysms

Cardiovascular Vascular:
rare compression of inferior vena cava (secondary lower extremity edema)

Abdomen Gastrointestinal:
early satiety due to mass effect of liver

Skeletal Spine:
back pain due to mass effect of liver

Laboratory Abnormalities:
slightly increased serum alkaline phosphatase may occur
increased total bilirubin may occur
lower total cholesterol
lower triglycerides


Clinical features from OMIM:

174050

Human phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 HP:0000107
2 abnormality of the nervous system 32 HP:0000707
3 ascites 32 HP:0001541
4 abnormality of the cardiovascular system 32 HP:0001626
5 elevated alkaline phosphatase 32 occasional (7.5%) HP:0003155
6 abdominal distention 32 HP:0003270
7 back pain 32 HP:0003418
8 increased total bilirubin 32 HP:0003573
9 polycystic liver disease 32 HP:0006557

UMLS symptoms related to Polycystic Liver Disease 1 with or Without Kidney Cysts:


hepatosplenomegaly

GenomeRNAi Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.02 ENPP1 MUC1 PKD1 PKD2 TSC1

MGI Mouse Phenotypes related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 PKD1 PKD2 PKHD1 PRKCSH PTCH1 SEC63
2 growth/size/body region MP:0005378 10.1 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
3 cardiovascular system MP:0005385 10.09 ACTC1 ENPP1 FLCN LRP5 PKD1 PKD2
4 homeostasis/metabolism MP:0005376 10.07 TSC1 ACTC1 ENPP1 FLCN HNF1B KRT7
5 endocrine/exocrine gland MP:0005379 10.02 MLC1 NPHP1 PKD1 PKD2 PKHD1 PTCH1
6 liver/biliary system MP:0005370 9.81 ENPP1 HNF1B LRP5 PKD1 PKD2 PKHD1
7 mortality/aging MP:0010768 9.77 ACTC1 ENPP1 FLCN HNF1B KRT17 LRP5
8 renal/urinary system MP:0005367 9.4 ENPP1 FLCN HNF1B KRT7 NPHP1 PKD1

Drugs & Therapeutics for Polycystic Liver Disease 1 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 1 with or Without Kidney Cysts

Cochrane evidence based reviews: cysts

Genetic Tests for Polycystic Liver Disease 1 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

# Genetic test Affiliating Genes
1 Polycystic Liver Disease 1 29 PRKCSH SEC63

Anatomical Context for Polycystic Liver Disease 1 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

41
Liver, Kidney

Publications for Polycystic Liver Disease 1 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 1 with or Without Kidney Cysts:

(show all 14)
# Title Authors Year
1
Isolated Polycystic Liver Disease: An Unusual Cause of Recurrent Variceal Bleed. ( 29971171 )
2018
2
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. ( 29243290 )
2018
3
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28375157 )
2017
4
Isolated polycystic liver disease genes define effectors of polycystin-1 function. ( 28862642 )
2017
5
Isolated polycystic liver disease and aneurism: a case report. ( 27275480 )
2016
6
Neuroendocrine tumor in the liver of a patient with isolated polycystic liver disease: A case report and review of the literature. ( 23761831 )
2013
7
Excellent survival after liver transplantation for isolated polycystic liver disease: an European Liver Transplant Registry study. ( 21955068 )
2011
8
Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. ( 20408955 )
2011
9
Isolated polycystic liver disease. ( 20219621 )
2010
10
Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease. ( 17927714 )
2008
11
Isolated polycystic liver disease--a rare entity: report of a case. ( 17883078 )
2007
12
Isolated polycystic liver disease not linked to polycystic kidney disease 1 and 2. ( 10063927 )
1999
13
Screening for intracranial aneurysms in patients with isolated polycystic liver disease. ( 9817407 )
1998
14
Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. ( 8591848 )
1996

Variations for Polycystic Liver Disease 1 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 1 with or Without Kidney Cysts:

6
(show top 50) (show all 382)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKCSH NM_002743.3(PRKCSH): c.1341-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 19, 11559889: 11559889
2 PRKCSH NM_002743.3(PRKCSH): c.1341-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 19, 11449074: 11449074
3 PRKCSH NM_002743.3(PRKCSH): c.292+1G> C single nucleotide variant Pathogenic rs774233325 GRCh37 Chromosome 19, 11548793: 11548793
4 PRKCSH NM_002743.3(PRKCSH): c.292+1G> C single nucleotide variant Pathogenic rs774233325 GRCh38 Chromosome 19, 11437972: 11437972
5 PRKCSH NM_002743.3(PRKCSH): c.1440+1_1440+2del deletion Pathogenic rs757957327 GRCh38 Chromosome 19, 11449176: 11449177
6 PRKCSH NM_002743.3(PRKCSH): c.1440+1_1440+2del deletion Pathogenic rs757957327 GRCh37 Chromosome 19, 11559991: 11559992
7 PRKCSH NM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs121918519 GRCh37 Chromosome 19, 11559419: 11559419
8 PRKCSH NM_002743.3(PRKCSH): c.1240C> T (p.Gln414Ter) single nucleotide variant Pathogenic rs121918519 GRCh38 Chromosome 19, 11448604: 11448604
9 PRKCSH NM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs121918520 GRCh37 Chromosome 19, 11559732: 11559732
10 PRKCSH NM_002743.3(PRKCSH): c.1269C> G (p.Tyr423Ter) single nucleotide variant Pathogenic rs121918520 GRCh38 Chromosome 19, 11448917: 11448917
11 PRKCSH NM_002743.3(PRKCSH): c.215dup (p.Asn72Lysfs) duplication Pathogenic GRCh37 Chromosome 19, 11548715: 11548715
12 PRKCSH NM_002743.3(PRKCSH): c.215dup (p.Asn72Lysfs) duplication Pathogenic GRCh38 Chromosome 19, 11437894: 11437894
13 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh37 Chromosome 11, 68193580: 68193580
14 LRP5 NM_002335.3(LRP5): c.3562C> T (p.Arg1188Trp) single nucleotide variant Pathogenic rs141178995 GRCh38 Chromosome 11, 68426112: 68426112
15 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh37 Chromosome 11, 68216277: 68216277
16 LRP5 NM_002335.3(LRP5): c.4587G> C (p.Arg1529Ser) single nucleotide variant Pathogenic rs724159826 GRCh38 Chromosome 11, 68448809: 68448809
17 LRP5 NM_002335.3(LRP5): c.4651G> A (p.Asp1551Asn) single nucleotide variant Pathogenic rs724159827 GRCh38 Chromosome 11, 68448873: 68448873
18 LRP5 NM_002335.3(LRP5): c.4651G> A (p.Asp1551Asn) single nucleotide variant Pathogenic rs724159827 GRCh37 Chromosome 11, 68216341: 68216341
19 SEC63 NM_007214.4(SEC63): c.340-12delG deletion Benign rs58827902 GRCh37 Chromosome 6, 108243125: 108243125
20 SEC63 NM_007214.4(SEC63): c.340-12delG deletion Benign rs58827902 GRCh38 Chromosome 6, 107921921: 107921921
21 SEC63 NM_007214.4(SEC63): c.109delC (p.Arg37Glufs) deletion Pathogenic rs727504146 GRCh37 Chromosome 6, 108279105: 108279105
22 SEC63 NM_007214.4(SEC63): c.109delC (p.Arg37Glufs) deletion Pathogenic rs727504146 GRCh38 Chromosome 6, 107957901: 107957901
23 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh37 Chromosome 11, 68154128: 68154128
24 LRP5 NM_002335.3(LRP5): c.1360G> A (p.Val454Met) single nucleotide variant Pathogenic rs373910016 GRCh38 Chromosome 11, 68386660: 68386660
25 SEC63 NM_007214.4(SEC63): c.1605dupA (p.Pro536Thrfs) duplication Pathogenic rs797044656 GRCh37 Chromosome 6, 108214755: 108214755
26 SEC63 NM_007214.4(SEC63): c.1605dupA (p.Pro536Thrfs) duplication Pathogenic rs797044656 GRCh38 Chromosome 6, 107893551: 107893551
27 PRKCSH NM_002743.3(PRKCSH): c.1460_1463delAAGA (p.Lys487Argfs) deletion Pathogenic rs794727187 GRCh37 Chromosome 19, 11560100: 11560103
28 PRKCSH NM_002743.3(PRKCSH): c.1460_1463delAAGA (p.Lys487Argfs) deletion Pathogenic rs794727187 GRCh38 Chromosome 19, 11449285: 11449288
29 SEC63 NM_007214.4(SEC63): c.340-12_340-11delGT deletion Benign/Likely benign rs139413431 GRCh37 Chromosome 6, 108243124: 108243125
30 SEC63 NM_007214.4(SEC63): c.340-12_340-11delGT deletion Benign/Likely benign rs139413431 GRCh38 Chromosome 6, 107921920: 107921921
31 SEC63 NM_007214.4(SEC63): c.452+1G> A single nucleotide variant Pathogenic rs869312977 GRCh37 Chromosome 6, 108243000: 108243000
32 SEC63 NM_007214.4(SEC63): c.452+1G> A single nucleotide variant Pathogenic rs869312977 GRCh38 Chromosome 6, 107921796: 107921796
33 SEC63 NM_007214.4(SEC63): c.220delG (p.Val74Terfs) deletion Pathogenic rs869312978 GRCh37 Chromosome 6, 108250623: 108250623
34 SEC63 NM_007214.4(SEC63): c.220delG (p.Val74Terfs) deletion Pathogenic rs869312978 GRCh38 Chromosome 6, 107929419: 107929419
35 SEC63 NM_007214.4(SEC63): c.2027C> T (p.Thr676Ile) single nucleotide variant Likely benign rs61733388 GRCh37 Chromosome 6, 108197775: 108197775
36 SEC63 NM_007214.4(SEC63): c.2027C> T (p.Thr676Ile) single nucleotide variant Likely benign rs61733388 GRCh38 Chromosome 6, 107876571: 107876571
37 PRKCSH NM_002743.3(PRKCSH): c.350+10T> C single nucleotide variant Likely benign rs188406927 GRCh38 Chromosome 19, 11438134: 11438134
38 PRKCSH NM_002743.3(PRKCSH): c.350+10T> C single nucleotide variant Likely benign rs188406927 GRCh37 Chromosome 19, 11548955: 11548955
39 PRKCSH NM_002743.3(PRKCSH): c.549T> C (p.Ala183=) single nucleotide variant Likely benign rs62638749 GRCh38 Chromosome 19, 11442466: 11442466
40 PRKCSH NM_002743.3(PRKCSH): c.549T> C (p.Ala183=) single nucleotide variant Likely benign rs62638749 GRCh37 Chromosome 19, 11553281: 11553281
41 PRKCSH NM_002743.3(PRKCSH): c.1265+14A> G single nucleotide variant Likely benign rs150798392 GRCh37 Chromosome 19, 11559458: 11559458
42 PRKCSH NM_002743.3(PRKCSH): c.1265+14A> G single nucleotide variant Likely benign rs150798392 GRCh38 Chromosome 19, 11448643: 11448643
43 PRKCSH NM_002743.3(PRKCSH): c.1338T> C (p.Leu446=) single nucleotide variant Likely benign rs139144555 GRCh38 Chromosome 19, 11448986: 11448986
44 PRKCSH NM_002743.3(PRKCSH): c.1338T> C (p.Leu446=) single nucleotide variant Likely benign rs139144555 GRCh37 Chromosome 19, 11559801: 11559801
45 PRKCSH NM_002743.3(PRKCSH): c.1357A> G (p.Ile453Val) single nucleotide variant Likely benign rs34351170 GRCh38 Chromosome 19, 11449092: 11449092
46 PRKCSH NM_002743.3(PRKCSH): c.1357A> G (p.Ile453Val) single nucleotide variant Likely benign rs34351170 GRCh37 Chromosome 19, 11559907: 11559907
47 PRKCSH NM_002743.3(PRKCSH): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs139991238 GRCh37 Chromosome 19, 11552120: 11552120
48 PRKCSH NM_002743.3(PRKCSH): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs139991238 GRCh38 Chromosome 19, 11441305: 11441305
49 SEC63 NM_007214.4(SEC63): c.*3948A> T single nucleotide variant Uncertain significance rs374547546 GRCh38 Chromosome 6, 107867756: 107867756
50 SEC63 NM_007214.4(SEC63): c.*3948A> T single nucleotide variant Uncertain significance rs374547546 GRCh37 Chromosome 6, 108188960: 108188960

Expression for Polycystic Liver Disease 1 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 1 with or Without Kidney Cysts.

Pathways for Polycystic Liver Disease 1 with or Without Kidney Cysts

Pathways related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.51 ACTC1 KRT17 KRT20 KRT7 MUC1

GO Terms for Polycystic Liver Disease 1 with or Without Kidney Cysts

Cellular components related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.56 ENPP1 MLC1 PKD1 PKD2
2 motile cilium GO:0031514 9.5 NPHP1 PKD1 PKD2
3 ciliary membrane GO:0060170 9.33 PKD1 PKD2 PTCH1
4 cilium GO:0005929 9.1 FLCN NPHP1 PKD1 PKD2 PKHD1 PTCH1
5 polycystin complex GO:0002133 8.96 PKD1 PKD2
6 plasma membrane GO:0005886 10.15 CEACAM3 ENPP1 FLCN LRP5 MLC1 MUC1

Biological processes related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.73 KRT17 KRT20 KRT7
2 kidney development GO:0001822 9.65 HNF1B PKD1 PKD2 PKHD1 TSC1
3 regulation of TOR signaling GO:0032006 9.55 FLCN PKHD1
4 intermediate filament organization GO:0045109 9.54 KRT17 KRT20
5 nitrogen compound metabolic process GO:0006807 9.54 PKD1 PRKCSH SEC63
6 detection of mechanical stimulus GO:0050982 9.52 PKD1 PKD2
7 placenta blood vessel development GO:0060674 9.51 PKD1 PKD2
8 mesonephric tubule development GO:0072164 9.5 HNF1B PKD1 PKD2
9 cellular response to cholesterol GO:0071397 9.49 MLC1 PTCH1
10 cytoplasmic sequestering of transcription factor GO:0042994 9.48 PKD1 PKD2
11 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.46 PKD1 PKD2
12 mammary gland duct morphogenesis GO:0060603 9.43 LRP5 PTCH1
13 metanephric ascending thin limb development GO:0072218 9.4 PKD1 PKD2
14 liver development GO:0001889 9.35 HNF1B PKD1 PKD2 PRKCSH SEC63
15 mesonephric duct development GO:0072177 9.33 HNF1B PKD1 PKD2
16 renal system development GO:0072001 9.02 PKD1 PKD2 PRKCSH PTCH1 SEC63

Molecular functions related to Polycystic Liver Disease 1 with or Without Kidney Cysts according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 ENPP1 FLCN HNF1B KRT17 KRT20 KRT7
2 protein-containing complex binding GO:0044877 9.26 FLCN HNF1B MLC1 PTCH1

Sources for Polycystic Liver Disease 1 with or Without Kidney Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....