Renal-Hepatic-Pancreatic Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RNL059 MIFTS: 34	Renal-Hepatic-Pancreatic Dysplasia Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Renal-Hepatic-Pancreatic Dysplasia

MalaCards integrated aliases for Renal-Hepatic-Pancreatic Dysplasia:

Name: Renal-Hepatic-Pancreatic Dysplasia ¹² ⁵⁹ ³⁷ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Renohepaticopancreatic Dysplasia ⁵⁹

Ivemark Ii Syndrome ⁵⁹

Ivemark's Syndrome ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

renal-hepatic-pancreatic dysplasia
Inheritance: Autosomal recessive;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Liver diseases Nephrological diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare hepatic diseases

Rare renal diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060259

Orphanet ⁵⁹ ORPHA294415

UMLS via Orphanet ⁷⁴ C2673883

KEGG ³⁷ H00543

UMLS ⁷³ C2673883

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Summaries for Renal-Hepatic-Pancreatic Dysplasia

Disease Ontology : ¹² A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.

MalaCards based summary : Renal-Hepatic-Pancreatic Dysplasia, also known as renohepaticopancreatic dysplasia, is related to renal-hepatic-pancreatic dysplasia 2 and meckel syndrome, type 7. An important gene associated with Renal-Hepatic-Pancreatic Dysplasia is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways is Canonical and Non-canonical Notch signaling. Affiliated tissues include liver, kidney and colon, and related phenotypes are cardiovascular system and growth/size/body region

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Related Diseases for Renal-Hepatic-Pancreatic Dysplasia

Diseases in the Renal-Hepatic-Pancreatic Dysplasia family:

Renal-Hepatic-Pancreatic Dysplasia 1

Renal-Hepatic-Pancreatic Dysplasia 2

Diseases related to Renal-Hepatic-Pancreatic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score	Top Affiliating Genes
1	renal-hepatic-pancreatic dysplasia 2	34.7	NEK8 TLCD1
2	meckel syndrome, type 7	33.1	NPHP3 NPHP3-ACAD11
3	renal-hepatic-pancreatic dysplasia 1	12.8
4	nephronophthisis 1	10.3	INVS NPHP3
5	infantile nephronophthisis	10.2	INVS NEK8 NPHP3
6	juvenile nephronophthisis	10.1	INVS IQCB1 NPHP3
7	pulmonary subvalvular stenosis	10.1	INVS NODAL
8	senior-loken syndrome 1	10.1	INVS IQCB1 NPHP3
9	nephronophthisis 11	10.1	IQCB1 NPHP3
10	cystic kidney disease	10.1	INVS NEK8 NPHP3 PKHD1
11	nephronophthisis 2	10.1	INVS IQCB1 NEK8 NPHP3
12	visceral heterotaxy	10.1	INVS NODAL NPHP3
13	cleft palate, isolated	10.0
14	short-rib thoracic dysplasia 1 with or without polydactyly	10.0
15	ellis-van creveld syndrome	10.0
16	situs inversus	10.0
17	transverse colon cancer	10.0	ETFA KRT7
18	joubert syndrome 1	10.0	ARL3 INVS IQCB1 NPHP3
19	congenital pancreatic cyst	10.0
20	nodular regenerative hyperplasia	10.0	JAG1 NOTCH2
21	leber congenital amaurosis	10.0	IQCB1 NPHP3 NPHP3-ACAD11 RBP1
22	cervical adenoma malignum	10.0	CALD1 KRT7
23	retinitis pigmentosa 3	9.9	IQCB1 RCC1
24	nephronophthisis 18	9.9	INVS IQCB1 NEK8 NPHP3 RCC1
25	cecal benign neoplasm	9.9	KRT7 NODAL
26	cervical mucinous adenocarcinoma	9.9	CALD1 KRT7
27	cecum adenocarcinoma	9.9	KRT7 NODAL
28	pseudopapilledema	9.8	JAG1 RET
29	ovarian germ cell teratoma	9.8	KRT7 RET
30	ovarian germ cell cancer	9.8	KRT7 RET
31	nephronophthisis	9.8	INVS IQCB1 NEK8 NPHP3 NPHP3-ACAD11 NPHP3-AS1
32	nephronophthisis 9	9.5	INVS JAG1 NEK8 NOTCH2 NPHP3 PKHD1

Graphical network of the top 20 diseases related to Renal-Hepatic-Pancreatic Dysplasia:

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Symptoms & Phenotypes for Renal-Hepatic-Pancreatic Dysplasia

MGI Mouse Phenotypes related to Renal-Hepatic-Pancreatic Dysplasia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.86	INVS JAG1 NEK8 NODAL NOTCH2 NPHP3
2	growth/size/body region	MP:0005378	9.85	ARL3 INVS JAG1 NEK8 NODAL NOTCH2
3	liver/biliary system	MP:0005370	9.5	ARL3 INVS JAG1 NODAL NOTCH2 PKHD1
4	renal/urinary system	MP:0005367	9.28	ARL3 INVS JAG1 KRT7 NEK8 NOTCH2

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Drugs & Therapeutics for Renal-Hepatic-Pancreatic Dysplasia

Search Clinical Trials , NIH Clinical Center for Renal-Hepatic-Pancreatic Dysplasia

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Genetic Tests for Renal-Hepatic-Pancreatic Dysplasia

Genetic tests related to Renal-Hepatic-Pancreatic Dysplasia:

#	Genetic test	Affiliating Genes
1	Renal-Hepatic-Pancreatic Dysplasia ²⁹	NPHP3

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Anatomical Context for Renal-Hepatic-Pancreatic Dysplasia

MalaCards organs/tissues related to Renal-Hepatic-Pancreatic Dysplasia:

⁴¹

Liver, Kidney, Colon

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Publications for Renal-Hepatic-Pancreatic Dysplasia

Articles related to Renal-Hepatic-Pancreatic Dysplasia:

(show all 16)

#	Title	Authors	Year
1	Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. ( 23686967 )	Copelovitch L....Kaplan B.S.	2013
2	Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder. ( 23438674 )		2013
3	Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. ( 20007846 )		2010
4	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. ( 18371931 )		2008
5	Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12. ( 17593545 )	Schrader K.A....Langlois S.	2007
6	Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). ( 17605805 )	Vankalakunti M...Das A	2007
7	Prenatal sonographic appearance of congenital bile duct dilatation associated with renal-hepatic-pancreatic dysplasia. ( 15170806 )	Boopathy Vijayaraghavan S....Raman M.L.	2004
8	MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and MA1llerian duct anomalies. ( 11807905 )	Witters I....Fryns J.P.	2002
9	Renal-hepatic-pancreatic dysplasia: a broad entity. ( 11186898 )	White SM...Bowker CM	2000
10	Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. ( 9841713 )	Bendon R.W.	1999
11	Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. ( 8874114 )	Neuhaus T.J....Leumann E.P.	1996
12	Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ( 8733053 )		1996
13	Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? ( 1785635 )	Hunter A.G....Tawagi F.G.	1991
14	Renal-hepatic-pancreatic dysplasia and its variants. ( 1741971 )	Lurie I.W....Burakovski I.V.	1991
15	Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ( 2325105 )	Brueton L.A....Winter R.M.	1990
16	Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. ( 3812591 )	Bernstein J....Wybel R.E.	1987

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Genes for Renal-Hepatic-Pancreatic Dysplasia

Genes related to Renal-Hepatic-Pancreatic Dysplasia (2 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NPHP3	Nephrocystin 3	Protein Coding	908.74	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	NEK8	NIMA Related Kinase 8	Protein Coding	384.43	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
3	INVS	Inversin	Protein Coding	21.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	PKHD1	PKHD1, Fibrocystin/Polyductin	Protein Coding	16.99	GeneCards inferred via : Publications (show sections)
5	ARL3	ADP Ribosylation Factor Like GTPase 3	Protein Coding	16.24	DISEASES inferred ¹⁵
6	IQCB1	IQ Motif Containing B1	Protein Coding	16.02	DISEASES inferred ¹⁵
7	RCC1	Regulator Of Chromosome Condensation 1	Protein Coding	15.68	DISEASES inferred ¹⁵
8	ETFA	Electron Transfer Flavoprotein Subunit Alpha	Protein Coding	15.66	DISEASES inferred ¹⁵
9	RBP1	Retinol Binding Protein 1	Protein Coding	15.24	DISEASES inferred ¹⁵
10	NOTCH2	Notch 2	Protein Coding	14.57	DISEASES inferred ¹⁵
11	NODAL	Nodal Growth Differentiation Factor	Protein Coding	14.48	DISEASES inferred ¹⁵
12	JAG1	Jagged 1	Protein Coding	14.26	DISEASES inferred ¹⁵
13	KRT7	Keratin 7	Protein Coding	13.61	DISEASES inferred ¹⁵
14	RET	Ret Proto-Oncogene	Protein Coding	13.46	DISEASES inferred ¹⁵
15	NPHP3-ACAD11	NPHP3-ACAD11 Readthrough (NMD Candidate)	RNA Gene	9.85	GeneCards inferred via : Variants (show sections)
16	NPHP3-AS1	NPHP3 Antisense RNA 1	RNA Gene	8.92	GeneCards inferred via : Variants (show sections)
17	TLCD1	TLC Domain Containing 1	Protein Coding	7.72	GeneCards inferred via : Variants (show sections)
18	CALD1	Caldesmon 1	Protein Coding	4.68	DISEASES inferred ¹⁵

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Variations for Renal-Hepatic-Pancreatic Dysplasia

ClinVar genetic disease variations for Renal-Hepatic-Pancreatic Dysplasia:

⁶ (show top 50) (show all 146)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	NPHP3	NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)	single nucleotide variant	Pathogenic	rs119456962	GRCh37	Chromosome 3, 132419192: 132419192
2	NPHP3	NM_153240.4(NPHP3): c.1729C> T (p.Arg577Ter)	single nucleotide variant	Pathogenic	rs119456962	GRCh38	Chromosome 3, 132700348: 132700348
3	NPHP3	NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln)	single nucleotide variant	Pathogenic	rs119456963	GRCh37	Chromosome 3, 132407701: 132407701
4	NPHP3	NM_153240.4(NPHP3): c.2918G> A (p.Arg973Gln)	single nucleotide variant	Pathogenic	rs119456963	GRCh38	Chromosome 3, 132688857: 132688857
5	NPHP3	NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter)	single nucleotide variant	Pathogenic	rs119456964	GRCh37	Chromosome 3, 132403628: 132403628
6	NPHP3	NM_153240.4(NPHP3): c.3340C> T (p.Gln1114Ter)	single nucleotide variant	Pathogenic	rs119456964	GRCh38	Chromosome 3, 132684784: 132684784
7	NPHP3	NM_153240.4(NPHP3): c.1985+5G> A	single nucleotide variant	Pathogenic	rs754508002	GRCh38	Chromosome 3, 132699348: 132699348
8	NPHP3	NM_153240.4(NPHP3): c.1985+5G> A	single nucleotide variant	Pathogenic	rs754508002	GRCh37	Chromosome 3, 132418192: 132418192
9	NPHP3	NM_153240.4(NPHP3): c.1986G> A (p.Arg662=)	single nucleotide variant	Benign/Likely benign	rs77533254	GRCh37	Chromosome 3, 132416206: 132416206
10	NPHP3	NM_153240.4(NPHP3): c.1986G> A (p.Arg662=)	single nucleotide variant	Benign/Likely benign	rs77533254	GRCh38	Chromosome 3, 132697362: 132697362
11	NPHP3	NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro)	single nucleotide variant	Likely pathogenic	rs398124546	GRCh37	Chromosome 3, 132411604: 132411604
12	NPHP3	NM_153240.4(NPHP3): c.2369T> C (p.Leu790Pro)	single nucleotide variant	Likely pathogenic	rs398124546	GRCh38	Chromosome 3, 132692760: 132692760
13	NPHP3	NM_153240.4(NPHP3): c.2571-7T> C	single nucleotide variant	Benign/Likely benign	rs62292468	GRCh37	Chromosome 3, 132409501: 132409501
14	NPHP3	NM_153240.4(NPHP3): c.2571-7T> C	single nucleotide variant	Benign/Likely benign	rs62292468	GRCh38	Chromosome 3, 132690657: 132690657
15	NPHP3	NM_153240.4(NPHP3): c.2610G> A (p.Pro870=)	single nucleotide variant	Benign/Likely benign	rs16839515	GRCh37	Chromosome 3, 132409455: 132409455
16	NPHP3	NM_153240.4(NPHP3): c.2610G> A (p.Pro870=)	single nucleotide variant	Benign/Likely benign	rs16839515	GRCh38	Chromosome 3, 132690611: 132690611
17	NPHP3	NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)	single nucleotide variant	Pathogenic	rs368138001	GRCh37	Chromosome 3, 132403595: 132403595
18	NPHP3	NM_153240.4(NPHP3): c.3373C> T (p.Arg1125Ter)	single nucleotide variant	Pathogenic	rs368138001	GRCh38	Chromosome 3, 132684751: 132684751
19	NPHP3	NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34391943	GRCh37	Chromosome 3, 132403418: 132403418
20	NPHP3	NM_153240.4(NPHP3): c.3550G> A (p.Ala1184Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34391943	GRCh38	Chromosome 3, 132684574: 132684574
21	NPHP3	NM_153240.4(NPHP3): c.57G> C (p.Thr19=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192633696	GRCh37	Chromosome 3, 132441143: 132441143
22	NPHP3	NM_153240.4(NPHP3): c.57G> C (p.Thr19=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs192633696	GRCh38	Chromosome 3, 132722299: 132722299
23	NPHP3	NM_153240.4(NPHP3): c.450G> A (p.Ala150=)	single nucleotide variant	Benign/Likely benign	rs78527322	GRCh37	Chromosome 3, 132438618: 132438618
24	NPHP3	NM_153240.4(NPHP3): c.450G> A (p.Ala150=)	single nucleotide variant	Benign/Likely benign	rs78527322	GRCh38	Chromosome 3, 132719774: 132719774
25	NPHP3	NM_153240.4(NPHP3): c.105G> A (p.Lys35=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377060857	GRCh37	Chromosome 3, 132441095: 132441095
26	NPHP3	NM_153240.4(NPHP3): c.105G> A (p.Lys35=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs377060857	GRCh38	Chromosome 3, 132722251: 132722251
27	NPHP3	NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs)	deletion	Pathogenic	rs758558609	GRCh37	Chromosome 3, 132440927: 132440927
28	NPHP3	NM_153240.4(NPHP3): c.273delC (p.Tyr91Terfs)	deletion	Pathogenic	rs758558609	GRCh38	Chromosome 3, 132722083: 132722083
29	NPHP3	NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs)	deletion	Pathogenic	rs763300393	GRCh37	Chromosome 3, 132438631: 132438634
30	NPHP3	NM_153240.4(NPHP3): c.434_437delAAAG (p.Glu145Valfs)	deletion	Pathogenic	rs763300393	GRCh38	Chromosome 3, 132719787: 132719790
31	NPHP3	NM_153240.4(NPHP3): c.864T> A (p.Thr288=)	single nucleotide variant	Benign/Likely benign	rs147932449	GRCh37	Chromosome 3, 132434022: 132434022
32	NPHP3	NM_153240.4(NPHP3): c.864T> A (p.Thr288=)	single nucleotide variant	Benign/Likely benign	rs147932449	GRCh38	Chromosome 3, 132715178: 132715178
33	NPHP3	NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys)	single nucleotide variant	Benign/Likely benign	rs35485382	GRCh37	Chromosome 3, 132400834: 132400834
34	NPHP3	NM_153240.4(NPHP3): c.3913C> T (p.Arg1305Cys)	single nucleotide variant	Benign/Likely benign	rs35485382	GRCh38	Chromosome 3, 132681990: 132681990
35	NPHP3	NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp)	single nucleotide variant	Uncertain significance	rs146054765	GRCh38	Chromosome 3, 132682752: 132682752
36	NPHP3	NM_153240.4(NPHP3): c.3763C> T (p.Arg1255Trp)	single nucleotide variant	Uncertain significance	rs146054765	GRCh37	Chromosome 3, 132401596: 132401596
37	NPHP3	NM_153240.4(NPHP3): c.2694-2_2694-1delAG	deletion	Pathogenic	rs751527253	GRCh38	Chromosome 3, 132689264: 132689265
38	NPHP3	NM_153240.4(NPHP3): c.2694-2_2694-1delAG	deletion	Pathogenic	rs751527253	GRCh37	Chromosome 3, 132408108: 132408109
39	NPHP3	NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=)	single nucleotide variant	Benign	rs6794496	GRCh37	Chromosome 3, 132401600: 132401600
40	NPHP3	NM_153240.4(NPHP3): c.3759G> A (p.Leu1253=)	single nucleotide variant	Benign	rs6794496	GRCh38	Chromosome 3, 132682756: 132682756
41	NPHP3	NM_153240.4(NPHP3): c.3125+12dupT	duplication	Benign	rs11396595	GRCh37	Chromosome 3, 132407482: 132407482
42	NPHP3	NM_153240.4(NPHP3): c.3125+12dupT	duplication	Benign	rs11396595	GRCh38	Chromosome 3, 132688638: 132688638
43	NPHP3	NM_153240.4(NPHP3): c.670+13C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202228115	GRCh38	Chromosome 3, 132718981: 132718981
44	NPHP3	NM_153240.4(NPHP3): c.670+13C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202228115	GRCh37	Chromosome 3, 132437825: 132437825
45	NPHP3	NM_153240.4(NPHP3): c.189G> C (p.Gly63=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs750280281	GRCh37	Chromosome 3, 132441011: 132441011
46	NPHP3	NM_153240.4(NPHP3): c.189G> C (p.Gly63=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs750280281	GRCh38	Chromosome 3, 132722167: 132722167
47	NPHP3	NM_153240.4(NPHP3): c.408G> A (p.Thr136=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141410951	GRCh37	Chromosome 3, 132438660: 132438660
48	NPHP3	NM_153240.4(NPHP3): c.408G> A (p.Thr136=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141410951	GRCh38	Chromosome 3, 132719816: 132719816
49	NPHP3	NM_153240.4(NPHP3): c.1525-5delT	deletion	Conflicting interpretations of pathogenicity	rs769466015	GRCh37	Chromosome 3, 132420382: 132420382
50	NPHP3	NM_153240.4(NPHP3): c.1525-5delT	deletion	Conflicting interpretations of pathogenicity	rs769466015	GRCh38	Chromosome 3, 132701538: 132701538

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Expression for Renal-Hepatic-Pancreatic Dysplasia

Search GEO for disease gene expression data for Renal-Hepatic-Pancreatic Dysplasia.

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Pathways for Renal-Hepatic-Pancreatic Dysplasia

Pathways related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Canonical and Non-canonical Notch signaling ¹	10.05	JAG1 NOTCH2

Sources

GO Terms for Renal-Hepatic-Pancreatic Dysplasia

Cellular components related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoskeleton	GO:0005856	9.43	ARL3 CALD1 INVS IQCB1 NEK8 PKHD1
2	cilium	GO:0005929	9.02	ARL3 INVS NEK8 NPHP3 PKHD1

Biological processes related to Renal-Hepatic-Pancreatic Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	animal organ morphogenesis	GO:0009887	9.61	JAG1 NEK8 NOTCH2
2	kidney development	GO:0001822	9.54	ARL3 NPHP3 PKHD1
3	cell fate determination	GO:0001709	9.4	JAG1 NOTCH2
4	determination of left/right symmetry	GO:0007368	9.33	NEK8 NODAL NPHP3
5	pulmonary valve morphogenesis	GO:0003184	9.32	JAG1 NOTCH2
6	Notch signaling involved in heart development	GO:0061314	9.26	JAG1 NOTCH2
7	cilium assembly	GO:0060271	9.26	ARL3 IQCB1 NPHP3 PKHD1
8	maintenance of animal organ identity	GO:0048496	8.62	IQCB1 NPHP3

Sources

Sources for Renal-Hepatic-Pancreatic Dysplasia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia