Polycystic Liver Disease 2 with or Without Kidney Cysts disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PCLD2 MCID: PLY173 MIFTS: 23	Polycystic Liver Disease 2 with or Without Kidney Cysts (PCLD2) Categories: Genetic diseases, Liver diseases, Nephrological diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Collapse all tables

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Aliases & Classifications for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Name: Polycystic Liver Disease 2 with or Without Kidney Cysts ⁵⁶ ⁷³

Polycystic Liver Disease 2 ⁵⁶ ²⁹ ⁶

Pcld2 ⁵⁶ ⁷³

Liver Disease, Polycystic, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

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

Inheritance:
autosomal dominant

HPO:

³¹

polycystic liver disease 2 with or without kidney cysts:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases Liver diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617004

OMIM Phenotypic Series ⁵⁶ PS174050

MeSH ⁴³ D003560 D008107

MedGen ⁴¹ C0158683 C4310769

SNOMED-CT via HPO ⁶⁸ 263681008 80515008 85057007

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Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

OMIM : ⁵⁶ PCLD2 is an autosomal dominant disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development. Abnormal biliary structures may be present early in life, but they usually remain asymptomatic until cyst growth initiates during adulthood. In advanced stages, patients may develop massively enlarged livers, which cause a spectrum of clinical features and complications. Genetic studies suggest that an accumulation of somatic hits in cyst epithelium determines the rate of cyst formation. 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). For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (174050). (617004)

MalaCards based summary : Polycystic Liver Disease 2 with or Without Kidney Cysts, is also known as polycystic liver disease 2. An important gene associated with Polycystic Liver Disease 2 with or Without Kidney Cysts is SEC63 (SEC63 Homolog, Protein Translocation Regulator). Affiliated tissues include liver and kidney, and related phenotypes are hepatomegaly and hepatic cysts

UniProtKB/Swiss-Prot : ⁷³ Polycystic liver disease 2 with or without kidney cysts: An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease.

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Related Diseases for Polycystic Liver Disease 2 with or Without Kidney Cysts

Diseases in the Polycystic Liver Disease 1 with or Without Kidney Cysts family:

Polycystic Liver Disease 2 with or Without Kidney Cysts	Polycystic Liver Disease 3 with or Without Kidney Cysts
Polycystic Liver Disease 4 with or Without Kidney Cysts

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Symptoms & Phenotypes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

³¹ (showing 2, show less)

#	Description	HPO Frequency	HPO Source Accession
1	hepatomegaly ³¹		HP:0002240
2	hepatic cysts ³¹		HP:0001407

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Liver:
hepatomegaly
liver cysts

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

Clinical features from OMIM:

617004

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Drugs & Therapeutics for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search Clinical Trials , NIH Clinical Center for Polycystic Liver Disease 2 with or Without Kidney Cysts

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Genetic Tests for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

#	Genetic test	Affiliating Genes
1	Polycystic Liver Disease 2 ²⁹	SEC63

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Anatomical Context for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

⁴⁰

Liver, Kidney

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Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

(showing 4, show less)

#	Title	Authors	PMID	Year
1	Mutations in SEC63 cause autosomal dominant polycystic liver disease. ⁶ ⁵⁶	Davila S...Somlo S	15133510	2004
2	Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. ⁵⁶	Cnossen WR...Drenth JP	24886261	2014
3	Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. ⁵⁶	Pirson Y...Verellen-Dumoulin C	8591848	1996
4	[Polycistic liver disease. The hepato-biliary sequential scintigraphy in comparison with other diagnostic procedures (author's transl)]. ⁶¹	Reichelt HG	905562	1977

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Genes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genes related to Polycystic Liver Disease 2 with or Without Kidney Cysts (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SEC63	SEC63 Homolog, Protein Translocation Regulator	Protein Coding	1008.51	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	15133510

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Variations for Polycystic Liver Disease 2 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 2 with or Without Kidney Cysts:

⁶ (showing 137, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SEC63	NM_007214.5(SEC63):c.514+1G>A	SNV	Pathogenic	522474	rs1554236269	6:108234569-108234569	6:107913365-107913365
2	SEC63	NM_007214.5(SEC63):c.173G>A (p.Trp58Ter)	SNV	Pathogenic	2167	rs119103233	6:108250670-108250670	6:107929466-107929466
3	SEC63	NM_007214.5(SEC63):c.442_443insA (p.Ala148fs)	insertion	Pathogenic	2168	rs886041027	6:108243010-108243011	6:107921806-107921807
4	SEC63	NM_007214.5(SEC63):c.733+1G>A	SNV	Pathogenic	2169	rs886041028	6:108230130-108230130	6:107908926-107908926
5	SEC63	NM_007214.5(SEC63):c.1697_1699AAG[2] (p.Glu568del)	short repeat	Conflicting interpretations of pathogenicity	354899	rs752018806	6:108204320-108204322	6:107883116-107883118
6	SEC63	NM_007214.5(SEC63):c.1675-15G>C	SNV	Uncertain significance	354900	rs886060954	6:108204365-108204365	6:107883161-107883161
7	SEC63	NM_007214.5(SEC63):c.828+13T>C	SNV	Uncertain significance	354909	rs886060955	6:108227874-108227874	6:107906670-107906670
8	SEC63	NM_007214.5(SEC63):c.225-10T>A	SNV	Uncertain significance	354919	rs886060958	6:108246146-108246146	6:107924942-107924942
9	SEC63	NM_007214.5(SEC63):c.*3800A>G	SNV	Uncertain significance	354808	rs886060934	6:108189108-108189108	6:107867904-107867904
10	SEC63	NM_007214.5(SEC63):c.*3772G>A	SNV	Uncertain significance	354809	rs886060935	6:108189136-108189136	6:107867932-107867932
11	SEC63	NM_007214.5(SEC63):c.*3510T>A	SNV	Uncertain significance	354814	rs555871275	6:108189398-108189398	6:107868194-107868194
12	SEC63	NM_007214.5(SEC63):c.*3171G>C	SNV	Uncertain significance	354829	rs542434422	6:108189737-108189737	6:107868533-107868533
13	SEC63	NM_007214.5(SEC63):c.*2624T>C	SNV	Uncertain significance	354843	rs368337970	6:108190284-108190284	6:107869080-107869080
14	SEC63	NM_007214.5(SEC63):c.*1433T>C	SNV	Uncertain significance	354870	rs886060951	6:108191475-108191475	6:107870271-107870271
15	SEC63	NM_007214.5(SEC63):c.*514T>C	SNV	Uncertain significance	354880	rs557190642	6:108192394-108192394	6:107871190-107871190
16	SEC63	NM_007214.5(SEC63):c.*396T>C	SNV	Uncertain significance	354882	rs368205255	6:108192512-108192512	6:107871308-107871308
17	SEC63	NM_007214.5(SEC63):c.*2223G>A	SNV	Uncertain significance	354850	rs9986549	6:108190685-108190685	6:107869481-107869481
18	SEC63	NM_007214.5(SEC63):c.*129G>A	SNV	Uncertain significance	354887	rs552904217	6:108192779-108192779	6:107871575-107871575
19	SEC63	NM_007214.5(SEC63):c.*3210C>T	SNV	Uncertain significance	354828	rs570848637	6:108189698-108189698	6:107868494-107868494
20	SEC63	NM_007214.5(SEC63):c.*1108A>G	SNV	Uncertain significance	354877	rs560882192	6:108191800-108191800	6:107870596-107870596
21	SEC63	NM_007214.5(SEC63):c.*3704C>G	SNV	Uncertain significance	354811	rs554141897	6:108189204-108189204	6:107868000-107868000
22	SEC63	NM_007214.5(SEC63):c.*2833A>C	SNV	Uncertain significance	354839	rs886060942	6:108190075-108190075	6:107868871-107868871
23	SEC63	NM_007214.5(SEC63):c.*2607G>C	SNV	Uncertain significance	354844	rs549810875	6:108190301-108190301	6:107869097-107869097
24	SEC63	NM_007214.5(SEC63):c.*3434A>G	SNV	Uncertain significance	354823	rs886060938	6:108189474-108189474	6:107868270-107868270
25	SEC63	NM_007214.5(SEC63):c.*3107T>C	SNV	Uncertain significance	354833	rs778940501	6:108189801-108189801	6:107868597-107868597
26	SEC63	NM_007214.5(SEC63):c.*2876T>C	SNV	Uncertain significance	354837	rs375514344	6:108190032-108190032	6:107868828-107868828
27	SEC63	NM_007214.5(SEC63):c.*2862A>G	SNV	Uncertain significance	354838	rs886060941	6:108190046-108190046	6:107868842-107868842
28	SEC63	NM_007214.5(SEC63):c.*1113T>C	SNV	Uncertain significance	354876	rs886060953	6:108191795-108191795	6:107870591-107870591
29	SEC63	NM_007214.5(SEC63):c.*2522G>C	SNV	Uncertain significance	354845	rs886060943	6:108190386-108190386	6:107869182-107869182
30	SEC63	NM_007214.5(SEC63):c.*1941C>T	SNV	Uncertain significance	354853	rs886060944	6:108190967-108190967	6:107869763-107869763
31	SEC63	NM_007214.5(SEC63):c.*1685A>C	SNV	Uncertain significance	354866	rs558069212	6:108191223-108191223	6:107870019-107870019
32	SEC63	NM_007214.5(SEC63):c.*1471A>G	SNV	Uncertain significance	354869	rs886060950	6:108191437-108191437	6:107870233-107870233
33	SEC63	NM_007214.5(SEC63):c.*1343G>A	SNV	Uncertain significance	354873	rs886060952	6:108191565-108191565	6:107870361-107870361
34	SEC63	NM_007214.5(SEC63):c.*358T>C	SNV	Uncertain significance	354884	rs529945456	6:108192550-108192550	6:107871346-107871346
35	SEC63	NM_007214.5(SEC63):c.910C>A (p.Leu304Ile)	SNV	Uncertain significance	354908	rs745328381	6:108227703-108227703	6:107906499-107906499
36	SEC63	NM_007214.5(SEC63):c.*3819A>G	SNV	Uncertain significance	904008		6:108189089-108189089	6:107867885-107867885
37	SEC63	NM_007214.5(SEC63):c.*3489A>G	SNV	Uncertain significance	905882		6:108189419-108189419	6:107868215-107868215
38	SEC63	NM_007214.5(SEC63):c.*3456T>C	SNV	Uncertain significance	905883		6:108189452-108189452	6:107868248-107868248
39	SEC63	NM_007214.5(SEC63):c.*3430A>G	SNV	Uncertain significance	906399		6:108189478-108189478	6:107868274-107868274
40	SEC63	NM_007214.5(SEC63):c.452C>T (p.Ala151Val)	SNV	Uncertain significance	905039		6:108243001-108243001	6:107921797-107921797
41	SEC63	NM_007214.5(SEC63):c.374G>A (p.Arg125His)	SNV	Uncertain significance	905040		6:108243079-108243079	6:107921875-107921875
42	SEC63	NM_007214.5(SEC63):c.-148T>G	SNV	Uncertain significance	905041		6:108279361-108279361	6:107958157-107958157
43	SEC63	NM_007214.5(SEC63):c.1936-4C>T	SNV	Uncertain significance	907578		6:108197870-108197870	6:107876666-107876666
44	SEC63	NM_007214.5(SEC63):c.1441-9G>T	SNV	Uncertain significance	907579		6:108215110-108215110	6:107893906-107893906
45	SEC63	NM_007214.5(SEC63):c.1441-10C>T	SNV	Uncertain significance	907580		6:108215111-108215111	6:107893907-107893907
46	SEC63	NM_007214.5(SEC63):c.*1071G>C	SNV	Uncertain significance	907518		6:108191837-108191837	6:107870633-107870633
47	SEC63	NM_007214.5(SEC63):c.*1061G>A	SNV	Uncertain significance	907519		6:108191847-108191847	6:107870643-107870643
48	SEC63	NM_007214.5(SEC63):c.*1037A>G	SNV	Uncertain significance	907520		6:108191871-108191871	6:107870667-107870667
49	SEC63	NM_007214.5(SEC63):c.*936C>T	SNV	Uncertain significance	907521		6:108191972-108191972	6:107870768-107870768
50	SEC63	NM_007214.5(SEC63):c.*874A>G	SNV	Uncertain significance	907522		6:108192034-108192034	6:107870830-107870830
51	SEC63	NM_007214.5(SEC63):c.*577C>T	SNV	Uncertain significance	904191		6:108192331-108192331	6:107871127-107871127
52	SEC63	NM_007214.5(SEC63):c.*549C>T	SNV	Uncertain significance	904192		6:108192359-108192359	6:107871155-107871155
53	SEC63	NM_007214.5(SEC63):c.*437A>G	SNV	Uncertain significance	904193		6:108192471-108192471	6:107871267-107871267
54	SEC63	NM_007214.5(SEC63):c.*432G>T	SNV	Uncertain significance	904194		6:108192476-108192476	6:107871272-107871272
55	SEC63	NM_007214.5(SEC63):c.*432G>A	SNV	Uncertain significance	904195		6:108192476-108192476	6:107871272-107871272
56	SEC63	NM_007214.5(SEC63):c.*273A>C	SNV	Uncertain significance	904975		6:108192635-108192635	6:107871431-107871431
57	SEC63	NM_007214.5(SEC63):c.*24T>C	SNV	Uncertain significance	906563		6:108192884-108192884	6:107871680-107871680
58	SEC63	NM_007214.5(SEC63):c.*3133C>A	SNV	Uncertain significance	907404		6:108189775-108189775	6:107868571-107868571
59	SEC63	NM_007214.5(SEC63):c.*3116T>C	SNV	Uncertain significance	907405		6:108189792-108189792	6:107868588-107868588
60	SEC63	NM_007214.5(SEC63):c.*3032A>G	SNV	Uncertain significance	904070		6:108189876-108189876	6:107868672-107868672
61	SEC63	NM_007214.5(SEC63):c.*2946C>T	SNV	Uncertain significance	904071		6:108189962-108189962	6:107868758-107868758
62	SEC63	NM_007214.5(SEC63):c.*2791T>C	SNV	Uncertain significance	904072		6:108190117-108190117	6:107868913-107868913
63	SEC63	NM_007214.5(SEC63):c.*2783G>A	SNV	Uncertain significance	904848		6:108190125-108190125	6:107868921-107868921
64	SEC63	NM_007214.5(SEC63):c.*2704A>G	SNV	Uncertain significance	904849		6:108190204-108190204	6:107869000-107869000
65	SEC63	NM_007214.5(SEC63):c.*2618C>A	SNV	Uncertain significance	904850		6:108190290-108190290	6:107869086-107869086
66	SEC63	NM_007214.5(SEC63):c.*2465C>T	SNV	Uncertain significance	906465		6:108190443-108190443	6:107869239-107869239
67	SEC63	NM_007214.5(SEC63):c.*2379G>C	SNV	Uncertain significance	906466		6:108190529-108190529	6:107869325-107869325
68	SEC63	NM_007214.5(SEC63):c.*2301A>G	SNV	Uncertain significance	906467		6:108190607-108190607	6:107869403-107869403
69	SEC63	NM_007214.5(SEC63):c.*2287G>T	SNV	Uncertain significance	906468		6:108190621-108190621	6:107869417-107869417
70	SEC63	NM_007214.5(SEC63):c.*2131C>T	SNV	Uncertain significance	907455		6:108190777-108190777	6:107869573-107869573
71	SEC63	NM_007214.5(SEC63):c.*2041A>G	SNV	Uncertain significance	907456		6:108190867-108190867	6:107869663-107869663
72	SEC63	NM_007214.5(SEC63):c.*1931A>C	SNV	Uncertain significance	907457		6:108190977-108190977	6:107869773-107869773
73	SEC63	NM_007214.5(SEC63):c.*1832A>G	SNV	Uncertain significance	904137		6:108191076-108191076	6:107869872-107869872
74	SEC63	NM_007214.5(SEC63):c.*1760T>C	SNV	Uncertain significance	904138		6:108191148-108191148	6:107869944-107869944
75	SEC63	NM_007214.5(SEC63):c.*1725G>C	SNV	Uncertain significance	904139		6:108191183-108191183	6:107869979-107869979
76	SEC63	NM_007214.5(SEC63):c.*1696G>A	SNV	Uncertain significance	904140		6:108191212-108191212	6:107870008-107870008
77	SEC63	NM_007214.5(SEC63):c.*1655G>A	SNV	Uncertain significance	904914		6:108191253-108191253	6:107870049-107870049
78	SEC63	NM_007214.5(SEC63):c.*1650G>A	SNV	Uncertain significance	904915		6:108191258-108191258	6:107870054-107870054
79	SEC63	NM_007214.5(SEC63):c.*1568G>A	SNV	Uncertain significance	904916		6:108191340-108191340	6:107870136-107870136
80	SEC63	NM_007214.5(SEC63):c.*1475C>T	SNV	Uncertain significance	904917		6:108191433-108191433	6:107870229-107870229
81	SEC63	NM_007214.5(SEC63):c.*1420T>G	SNV	Uncertain significance	906510		6:108191488-108191488	6:107870284-107870284
82	SEC63	NM_007214.5(SEC63):c.2034+10A>G	SNV	Likely benign	354891	rs200406751	6:108197758-108197758	6:107876554-107876554
83	SEC63	NM_007214.5(SEC63):c.*1230T>C	SNV	Likely benign	354874	rs188437808	6:108191678-108191678	6:107870474-107870474
84	SEC63	NM_007214.5(SEC63):c.*396T>A	SNV	Likely benign	354883	rs368205255	6:108192512-108192512	6:107871308-107871308
85	SEC63	NM_007214.5(SEC63):c.*257A>G	SNV	Likely benign	354885	rs148053936	6:108192651-108192651	6:107871447-107871447
86	SEC63	NM_007214.5(SEC63):c.1176G>A (p.Glu392=)	SNV	Likely benign	354907	rs61754483	6:108224081-108224081	6:107902877-107902877
87	SEC63	NM_007214.5(SEC63):c.*3469T>G	SNV	Likely benign	354822	rs540628373	6:108189439-108189439	6:107868235-107868235
88	SEC63	NM_007214.5(SEC63):c.237G>A (p.Leu79=)	SNV	Likely benign	354917	rs146134069	6:108246124-108246124	6:107924920-107924920
89	SEC63	NM_007214.5(SEC63):c.2205G>C (p.Gly735=)	SNV	Likely benign	354889	rs761321161	6:108192986-108192986	6:107871782-107871782
90	SEC63	NM_007214.5(SEC63):c.230T>C (p.Ile77Thr)	SNV	Likely benign	354918	rs140251976	6:108246131-108246131	6:107924927-107924927
91	SEC63	NM_007214.5(SEC63):c.882C>T (p.Thr294=)	SNV	Likely benign	904250		6:108227731-108227731	6:107906527-107906527
92	SEC63	NM_007214.5(SEC63):c.-77C>T	SNV	Benign	354921	rs2272884	6:108279290-108279290	6:107958086-107958086
93	SEC63	NM_007214.5(SEC63):c.1674T>C (p.Asn558=)	SNV	Benign	354901	rs143570743	6:108214686-108214686	6:107893482-107893482
94	SEC63	NM_007214.5(SEC63):c.1278C>T (p.Phe426=)	SNV	Benign	354905	rs146559698	6:108222653-108222653	6:107901449-107901449
95	SEC63	NM_007214.5(SEC63):c.2134T>C (p.Leu712=)	SNV	Benign	354890	rs61733387	6:108194017-108194017	6:107872813-107872813
96	SEC63	NM_007214.5(SEC63):c.*3501A>G	SNV	Benign	354816	rs377612532	6:108189407-108189407	6:107868203-107868203
97	SEC63	NM_007214.5(SEC63):c.*3334C>T	SNV	Benign	354827	rs112894937	6:108189574-108189574	6:107868370-107868370
98	SEC63	NM_007214.5(SEC63):c.*861A>G	SNV	Benign	354879	rs9480810	6:108192047-108192047	6:107870843-107870843
99	SEC63	NM_007214.5(SEC63):c.*411C>T	SNV	Benign	354881	rs140498555	6:108192497-108192497	6:107871293-107871293
100	SEC63	NM_007214.5(SEC63):c.*123T>A	SNV	Benign	354888	rs503068	6:108192785-108192785	6:107871581-107871581
101	SEC63	NM_007214.5(SEC63):c.*3170C>T	SNV	Benign	354830	rs12529777	6:108189738-108189738	6:107868534-107868534
102	SEC63	NM_007214.5(SEC63):c.*3128G>A	SNV	Benign	354831	rs114322175	6:108189780-108189780	6:107868576-107868576
103	SEC63	NM_007214.5(SEC63):c.*2886A>C	SNV	Benign	354836	rs182441835	6:108190022-108190022	6:107868818-107868818
104	SEC63	NM_007214.5(SEC63):c.*2811C>T	SNV	Benign	354840	rs74799313	6:108190097-108190097	6:107868893-107868893
105	SEC63	NM_007214.5(SEC63):c.*2456G>A	SNV	Benign	354848	rs151325651	6:108190452-108190452	6:107869248-107869248
106	SEC63	NM_007214.5(SEC63):c.*2086G>C	SNV	Benign	354851	rs550478845	6:108190822-108190822	6:107869618-107869618
107	SEC63	NM_007214.5(SEC63):c.*1705G>A	SNV	Benign	354865	rs672444	6:108191203-108191203	6:107869999-107869999
108	SEC63	NM_007214.5(SEC63):c.*1612T>C	SNV	Benign	354867	rs76842245	6:108191296-108191296	6:107870092-107870092
109	SEC63	NM_007214.5(SEC63):c.*1526T>C	SNV	Benign	354868	rs557911	6:108191382-108191382	6:107870178-107870178
110	SEC63	NM_007214.5(SEC63):c.*1398A>C	SNV	Benign	354871	rs556907	6:108191510-108191510	6:107870306-107870306
111	SEC63	NM_007214.5(SEC63):c.1441-5C>T	SNV	Benign	354904	rs370312823	6:108215106-108215106	6:107893902-107893902
112	SEC63	NM_007214.5(SEC63):c.*1901A>G	SNV	Benign	354861	rs10872020	6:108191007-108191007	6:107869803-107869803
113	SEC63	NM_007214.5(SEC63):c.*256T>C	SNV	Benign	354886	rs111637159	6:108192652-108192652	6:107871448-107871448
114	SEC63	NM_007214.5(SEC63):c.*2376A>T	SNV	Benign	354849	rs78776458	6:108190532-108190532	6:107869328-107869328
115	SEC63	NM_007214.5(SEC63):c.*3127C>T	SNV	Benign	354832	rs541730962	6:108189781-108189781	6:107868577-107868577
116	SEC63	NM_007214.5(SEC63):c.*3498C>T	SNV	Benign	354818	rs577860076	6:108189410-108189410	6:107868206-107868206
117	SEC63	NM_007214.5(SEC63):c.*3497A>G	SNV	Benign	354819	rs6933329	6:108189411-108189411	6:107868207-107868207
118	SEC63	NM_007214.5(SEC63):c.*3393C>T	SNV	Benign	354826	rs592939	6:108189515-108189515	6:107868311-107868311
119	SEC63	NM_007214.5(SEC63):c.*3431A>C	SNV	Benign	354825	rs592989	6:108189477-108189477	6:107868273-107868273
120	SEC63	NM_007214.5(SEC63):c.*3580G>A	SNV	Benign	354812	rs847120	6:108189328-108189328	6:107868124-107868124
121	SEC63	NM_007214.5(SEC63):c.*3502C>T	SNV	Benign	354815	rs181941841	6:108189406-108189406	6:107868202-107868202
122	SEC63	NM_007214.5(SEC63):c.564C>T (p.Asn188=)	SNV	Benign	95474	rs675117	6:108233929-108233929	6:107912725-107912725
123	SEC63	NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile)	SNV	Benign	260153	rs61733388	6:108197775-108197775	6:107876571-107876571
124	SEC63	NM_007214.5(SEC63):c.807G>A (p.Thr269=)	SNV	Benign	354910	rs182467867	6:108227908-108227908	6:107906704-107906704
125	SEC63	NM_007214.5(SEC63):c.*3499A>C	SNV	Benign	354817	rs143966094	6:108189409-108189409	6:107868205-107868205
126	SEC63	NM_007214.5(SEC63):c.*1839C>G	SNV	Benign	354862	rs150031834	6:108191069-108191069	6:107869865-107869865
127	SEC63	NM_007214.5(SEC63):c.*2705T>C	SNV	Benign	354841	rs687374	6:108190203-108190203	6:107868999-107868999
128	SEC63	NM_007214.5(SEC63):c.1666G>A (p.Val556Ile)	SNV	Benign	354902	rs17854547	6:108214694-108214694	6:107893490-107893490
129	SEC63	NM_007214.5(SEC63):c.*3895T>C	SNV	Benign	354807	rs12661966	6:108189013-108189013	6:107867809-107867809
130	SEC63	NM_007214.5(SEC63):c.*2046C>G	SNV	Benign	354852	rs139373195	6:108190862-108190862	6:107869658-107869658
131	SEC63	NM_007214.5(SEC63):c.*907C>T	SNV	Benign	354878	rs571893658	6:108192001-108192001	6:107870797-107870797
132	SEC63	NM_007214.5(SEC63):c.*2662G>A	SNV	Benign	354842	rs513325	6:108190246-108190246	6:107869042-107869042
133	SEC63	NM_007214.5(SEC63):c.*1178T>G	SNV	Benign	906511		6:108191730-108191730	6:107870526-107870526
134	SEC63	NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu)	SNV	Benign	906564		6:108197777-108197777	6:107876573-107876573
135	SEC63	NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala)	SNV	Benign	906565		6:108197818-108197818	6:107876614-107876614
136	SEC63	NM_007214.5(SEC63):c.979A>G (p.Lys327Glu)	SNV	Benign	904249		6:108225908-108225908	6:107904704-107904704
137	SEC63	NM_007214.5(SEC63):c.*3390G>A	SNV	Benign	906400		6:108189518-108189518	6:107868314-107868314

Sources

Expression for Polycystic Liver Disease 2 with or Without Kidney Cysts

Search GEO for disease gene expression data for Polycystic Liver Disease 2 with or Without Kidney Cysts.

Sources

Pathways for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources

GO Terms for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources

Sources for Polycystic Liver Disease 2 with or Without Kidney Cysts

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Polycystic Liver Disease 2 with or Without Kidney Cysts (PCLD2)

Aliases & Classifications for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards integrated aliases for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Polycystic Liver Disease 2 with or Without Kidney Cysts

Related Diseases for Polycystic Liver Disease 2 with or Without Kidney Cysts

Diseases in the Polycystic Liver Disease 1 with or Without Kidney Cysts family:

Symptoms & Phenotypes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Human phenotypes related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic Tests for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genetic tests related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

Anatomical Context for Polycystic Liver Disease 2 with or Without Kidney Cysts

MalaCards organs/tissues related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

Publications for Polycystic Liver Disease 2 with or Without Kidney Cysts

Articles related to Polycystic Liver Disease 2 with or Without Kidney Cysts:

Genes for Polycystic Liver Disease 2 with or Without Kidney Cysts

Genes related to Polycystic Liver Disease 2 with or Without Kidney Cysts (1 elite genes):

Variations for Polycystic Liver Disease 2 with or Without Kidney Cysts

ClinVar genetic disease variations for Polycystic Liver Disease 2 with or Without Kidney Cysts:

Expression for Polycystic Liver Disease 2 with or Without Kidney Cysts

Pathways for Polycystic Liver Disease 2 with or Without Kidney Cysts

GO Terms for Polycystic Liver Disease 2 with or Without Kidney Cysts

Sources for Polycystic Liver Disease 2 with or Without Kidney Cysts