Nephronophthisis 16 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NPHP16 MCID: NPH068 MIFTS: 43	Nephronophthisis 16 (NPHP16) Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Name: Nephronophthisis 16 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Nphp16 ⁵⁷ ¹² ⁷³

Nephronophthisis, Type 16 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
some patients show onset in childhood
progressive renal disorder

HPO:

³¹

nephronophthisis 16:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111124

OMIM® ⁵⁷ 615382

OMIM Phenotypic Series ⁵⁷ PS256100

MeSH ⁴⁴ D052177

MedGen ⁴¹ C3809320 CN179770

UMLS ⁷¹ C3809320

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Summaries for Nephronophthisis 16

UniProtKB/Swiss-Prot : ⁷³ Nephronophthisis 16: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.

MalaCards based summary : Nephronophthisis 16, also known as nphp16, is related to retinal ciliopathy and nephronophthisis 4. An important gene associated with Nephronophthisis 16 is ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, and related phenotypes are hypertrophic cardiomyopathy and patent ductus arteriosus

Disease Ontology : ¹² A nephronophthisis that has material basis in homozygous mutation in the ANKS6 gene on chromosome 9q22.

More information from OMIM: 615382 PS256100

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Related Diseases for Nephronophthisis 16

Diseases in the Nephronophthisis family:

Nephronophthisis 1	Nephronophthisis 2
Nephronophthisis 3	Nephronophthisis 4
Nephronophthisis 7	Nephronophthisis 11
Nephronophthisis 12	Nephronophthisis 9
Nephronophthisis 13	Nephronophthisis 14
Nephronophthisis 15	Nephronophthisis 16
Nephronophthisis 18	Nephronophthisis 19
Nephronophthisis 20	Infantile Nephronophthisis
Juvenile Nephronophthisis	Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)

#	Related Disease	Score	Top Affiliating Genes
1	retinal ciliopathy	10.1	IQCB1 CEP290
2	nephronophthisis 4	10.0	NPHP4 NPHP1
3	leber congenital amaurosis 8	10.0	IQCB1 CEP290
4	tubulointerstitial kidney disease, autosomal dominant, 1	10.0	NPHP4 NPHP1
5	leber congenital amaurosis 10	10.0	IQCB1 CEP290
6	simpson-golabi-behmel syndrome, type 2	10.0	SDCCAG8 CEP290
7	leber congenital amaurosis 4	10.0	IQCB1 CEP290
8	cone-rod dystrophy 13	9.9	RPGRIP1L NPHP4 IQCB1
9	orofaciodigital syndrome i	9.9	CEP83 CEP290
10	polycystic liver disease 1 with or without kidney cysts	9.9	NPHP4 NPHP1
11	polycystic liver disease	9.9	TMEM67 NEK8 INVS
12	joubert syndrome 15	9.9	RPGRIP1L NPHP4 NPHP1
13	joubert syndrome 14	9.9	RPGRIP1L NPHP4 NPHP1
14	leber congenital amaurosis 3	9.8	NPHP4 IQCB1 CEP290
15	bardet-biedl syndrome 16	9.8	SDCCAG8 CEP290
16	caroli disease	9.8	WDR19 NPHP3 NPHP1 INVS
17	renal dysplasia, cystic	9.8	NPHP3 CEP290 BICC1
18	joubert syndrome 24	9.8	RPGRIP1L NPHP1 CEP290
19	congenital hepatic fibrosis	9.7	TMEM67 RPGRIP1L ANKS6
20	bardet-biedl syndrome 11	9.7	SDCCAG8 RPGRIP1L CEP290
21	encephalocele	9.7	TMEM67 CEP290
22	joubert syndrome 10	9.7	TMEM67 RPGRIP1L NPHP1
23	nephronophthisis 1	9.7	RPGRIP1L NPHP4 NPHP3 NPHP1 INVS
24	meckel syndrome, type 8	9.7	TMEM67 RPGRIP1L NPHP3
25	infantile nephronophthisis	9.6	NPHP4 NPHP3 NEK8 INVS CEP83 ANKS6
26	bardet-biedl syndrome 6	9.6	SDCCAG8 RPGRIP1L INVS CEP290
27	orofaciodigital syndrome	9.6	TMEM67 CEP83 CEP290
28	johanson-blizzard syndrome	9.6	RPGRIP1L CEP290
29	physical disorder	9.6	TMEM67 INVS CEP290
30	cogan syndrome	9.6	RPGRIP1L NPHP4 NPHP1 CEP290
31	retinal aplasia	9.6	SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
32	apraxia	9.6	TMEM67 NPHP1 CEP290
33	ellis-van creveld syndrome	9.5	WDR19 RPGRIP1L INVS CEP290
34	joubert syndrome 9	9.5	TMEM67 RPGRIP1L CEP290
35	alstrom syndrome	9.4	RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
36	joubert syndrome 6	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
37	joubert syndrome 13	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
38	joubert syndrome 7	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
39	joubert syndrome 2	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
40	orofaciodigital syndrome vi	9.3	TMEM67 RPGRIP1L NPHP1 CEP290
41	meckel syndrome, type 2	9.3	TMEM67 RPGRIP1L NPHP4 CEP290
42	polycystic kidney disease	9.3	TMEM67 NPHP3 NEK8 INVS CEP290 ANKS6
43	nephronophthisis 18	9.3	SDCCAG8 NPHP4 NPHP3 NPHP1 NEK9 IQCB1
44	polycystic kidney disease 2 with or without polycystic liver disease	9.2	TMEM67 NPHP4 NEK9 NEK8 INVS BICC1
45	joubert syndrome 5	9.2	TMEM67 RPGRIP1L NPHP1 IQCB1 CEP290
46	bardet-biedl syndrome 1	9.2	TMEM67 SDCCAG8 NPHP4 NPHP1 CEP290
47	eye disease	9.2	WDR19 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
48	bardet-biedl syndrome 14	9.2	TMEM67 SDCCAG8 RPGRIP1L IQCB1 CEP290
49	joubert syndrome 8	9.2	TMEM67 RPGRIP1L NPHP3 NPHP1 CEP290
50	kidney disease	9.2	TMEM67 NPHP4 NPHP3 NPHP1 NEK8 CEP290

Graphical network of the top 20 diseases related to Nephronophthisis 16:

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Symptoms & Phenotypes for Nephronophthisis 16

Human phenotypes related to Nephronophthisis 16:

³¹ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	hypertrophic cardiomyopathy ³¹	occasional (7.5%)	HP:0001639
2	patent ductus arteriosus ³¹	occasional (7.5%)	HP:0001643
3	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
4	situs inversus totalis ³¹	occasional (7.5%)	HP:0001696
5	aortic valve stenosis ³¹	occasional (7.5%)	HP:0001650
6	renal insufficiency ³¹		HP:0000083
7	hepatic fibrosis ³¹		HP:0001395
8	polycystic kidney dysplasia ³¹		HP:0000113
9	enlarged kidney ³¹		HP:0000105
10	cholestasis ³¹		HP:0001396
11	nephronophthisis ³¹		HP:0000090

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Liver:
hepatic fibrosis
cholestasis

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Abdomen:
situs inversus (in some patients)

Genitourinary Kidneys:
renal failure
polycystic kidney disease
enlarged kidneys

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
aortic stenosis (in some patients)
pulmonic stenosis (in some patients)

Clinical features from OMIM®:

615382 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Nephronophthisis 16:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.22	ANKS6 BICC1 CEP290 CEP83 INVS NEK8
2	cellular	MP:0005384	10.16	BICC1 CEP290 INVS NPHP1 NPHP3 NPHP4
3	growth/size/body region	MP:0005378	10.1	ANKS3 ANKS6 BICC1 CEP290 CEP83 INVS
4	embryo	MP:0005380	10.07	ANKS3 ANKS6 BICC1 CEP83 INVS NEK9
5	mortality/aging	MP:0010768	10	ANKS3 ANKS6 BICC1 CEP290 CEP83 INVS
6	craniofacial	MP:0005382	9.98	BICC1 CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
7	digestive/alimentary	MP:0005381	9.95	BICC1 INVS NEK8 RPGRIP1L SDCCAG8 TMEM67
8	liver/biliary system	MP:0005370	9.73	ANKS6 BICC1 CEP290 INVS RPGRIP1L TMEM67
9	renal/urinary system	MP:0005367	9.65	BICC1 CEP290 INVS NEK8 NPHP1 NPHP3
10	respiratory system	MP:0005388	9.1	ANKS3 ANKS6 CEP290 INVS NEK8 RPGRIP1L

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Drugs & Therapeutics for Nephronophthisis 16

Search Clinical Trials , NIH Clinical Center for Nephronophthisis 16

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Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

#	Genetic test	Affiliating Genes
1	Nephronophthisis 16 ²⁹	ANKS6

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Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

⁴⁰

Kidney

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Publications for Nephronophthisis 16

Articles related to Nephronophthisis 16:

#	Title	Authors	PMID	Year
1	ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. ⁶ ⁵⁷	Hoff S...Lienkamp SS	23793029	2013
2	Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules. ⁶¹	Estrada Mallarino L...Walz G	32994509	2020
3	Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient. ⁶¹	Fang B...Jia X	31678577	2020
4	Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate. ⁶¹	Schlimpert M...Kammerer B	29899363	2018
5	Anks3 interacts with nephronophthisis proteins and is required for normal renal development. ⁶¹	Yakulov TA...Walz G	25671767	2015

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Genes for Nephronophthisis 16

Genes related to Nephronophthisis 16 (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ANKS6	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6	Protein Coding	1326.61	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23793029
2	IQCB1	IQ Motif Containing B1	Protein Coding	7.04	DISEASES inferred ¹⁵
3	ANKS3	Ankyrin Repeat And Sterile Alpha Motif Domain Containing 3	Protein Coding	7.03	DISEASES inferred ¹⁵
4	NEK8	NIMA Related Kinase 8	Protein Coding	6.86	DISEASES inferred ¹⁵
5	INVS	Inversin	Protein Coding	6.82	DISEASES inferred ¹⁵
6	NPHP3	Nephrocystin 3	Protein Coding	6.8	DISEASES inferred ¹⁵
7	NEK9	NIMA Related Kinase 9	Protein Coding	6.76	DISEASES inferred ¹⁵
8	NPHP1	Nephrocystin 1	Protein Coding	6.59	DISEASES inferred ¹⁵
9	SDCCAG8	SHH Signaling And Ciliogenesis Regulator SDCCAG8	Protein Coding	6.45	DISEASES inferred ¹⁵
10	CEP83	Centrosomal Protein 83	Protein Coding	6.33	DISEASES inferred ¹⁵
11	NPHP4	Nephrocystin 4	Protein Coding	6.32	DISEASES inferred ¹⁵
12	BICC1	BicC Family RNA Binding Protein 1	Protein Coding	6.3	DISEASES inferred ¹⁵
13	RPGRIP1L	RPGRIP1 Like	Protein Coding	6.25	DISEASES inferred ¹⁵
14	CEP290	Centrosomal Protein 290	Protein Coding	6.1	DISEASES inferred ¹⁵
15	TMEM67	Transmembrane Protein 67	Protein Coding	6.09	DISEASES inferred ¹⁵
16	WDR19	WD Repeat Domain 19	Protein Coding	6.04	DISEASES inferred ¹⁵

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Variations for Nephronophthisis 16

ClinVar genetic disease variations for Nephronophthisis 16:

⁶ (show top 50) (show all 82)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ANKS6	NM_173551.5(ANKS6):c.1973-3C>G	SNV	Pathogenic	64356	rs397514257	9:101530535-101530535	9:98768253-98768253
2	ANKS6	NM_173551.5(ANKS6):c.2054_2064del (p.His685fs)	Deletion	Pathogenic	64357	rs587777024	9:101530441-101530451	9:98768159-98768169
3	ANKS6	NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer)	Deletion	Pathogenic	64358	rs587777025	9:101513333-101513335	9:98751051-98751053
4	ANKS6	NM_173551.5(ANKS6):c.2512-2A>C	SNV	Pathogenic	64359	rs397514258	9:101498907-101498907	9:98736625-98736625
5	ANKS6	NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter)	SNV	Pathogenic	571622	rs756090222	9:101552521-101552521	9:98790239-98790239
6	ANKS6	NM_173551.5(ANKS6):c.694_718dup (p.Val240fs)	Duplication	Pathogenic	574976	rs1564228101	9:101552529-101552530	9:98790247-98790248
7	ANKS6	NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter)	SNV	Pathogenic	579608	rs369437168	9:101540694-101540694	9:98778412-98778412
8	ANKS6	NM_173551.5(ANKS6):c.539_540del (p.Leu180fs)	Deletion	Pathogenic	661012	rs1588420907	9:101552708-101552709	9:98790426-98790427
9	ANKS6	NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)	SNV	Pathogenic/Likely pathogenic	64355	rs377750405	9:101542517-101542517	9:98780235-98780235
10	ANKS6	NM_173551.5(ANKS6):c.847G>A (p.Val283Ile)	SNV	Uncertain significance	474455	rs748439897	9:101552401-101552401	9:98790119-98790119
11	ANKS6	NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser)	SNV	Uncertain significance	474452	rs374511363	9:101552835-101552835	9:98790553-98790553
12	ANKS6	NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly)	SNV	Uncertain significance	474449	rs372265310	9:101513378-101513378	9:98751096-98751096
13	ANKS6	NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala)	SNV	Uncertain significance	474450	rs1554752436	9:101558536-101558536	9:98796254-98796254
14	ANKS6	NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro)	SNV	Uncertain significance	579133	rs201419783	9:101518831-101518831	9:98756549-98756549
15	ANKS6	NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser)	SNV	Uncertain significance	566534	rs146038901	9:101530392-101530392	9:98768110-98768110
16	ANKS6	NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg)	SNV	Uncertain significance	566672	rs200902480	9:101552442-101552442	9:98790160-98790160
17	ANKS6	NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu)	SNV	Uncertain significance	567567	rs760387934	9:101530400-101530400	9:98768118-98768118
18	ANKS6	NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys)	SNV	Uncertain significance	474453	rs181546859	9:101552716-101552716	9:98790434-98790434
19	ANKS6	NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser)	SNV	Uncertain significance	474442	rs201297615	9:101544853-101544853	9:98782571-98782571
20	ANKS6	NM_173551.5(ANKS6):c.1913C>T (p.Ser638Leu)	SNV	Uncertain significance	474446	rs200373053	9:101533237-101533237	9:98770955-98770955
21	ANKS6	NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met)	SNV	Uncertain significance	541400	rs376870807	9:101546340-101546340	9:98784058-98784058
22	ANKS6	NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys)	SNV	Uncertain significance	541401	rs776931798	9:101544792-101544792	9:98782510-98782510
23	ANKS6	NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu)	SNV	Uncertain significance	541402	rs370230003	9:101518764-101518764	9:98756482-98756482
24	ANKS6	NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg)	SNV	Uncertain significance	541403	rs1554742278	9:101530453-101530453	9:98768171-98768171
25	ANKS6	NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg)	SNV	Uncertain significance	582762	rs202244716	9:101518795-101518795	9:98756513-98756513
26	ANKS6	NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu)	SNV	Uncertain significance	638870	rs199722684	9:101518761-101518761	9:98756479-98756479
27	ANKS6	NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr)	SNV	Uncertain significance	640676	rs765164797	9:101507849-101507849	9:98745567-98745567
28	ANKS6	NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly)	SNV	Uncertain significance	641730	rs41283630	9:101552584-101552584	9:98790302-98790302
29	ANKS6	NM_173551.5(ANKS6):c.1220-6C>T	SNV	Uncertain significance	641802	rs1371737147	9:101542625-101542625	9:98780343-98780343
30	ANKS6	NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp)	SNV	Uncertain significance	658948	rs199671276	9:101552824-101552824	9:98790542-98790542
31	ANKS6	NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met)	SNV	Uncertain significance	843092		9:101540654-101540654	9:98778372-98778372
32	ANKS6	NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp)	SNV	Uncertain significance	853983		9:101552791-101552791	9:98790509-98790509
33	ANKS6	NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser)	SNV	Uncertain significance	857507		9:101540684-101540684	9:98778402-98778402
34	ANKS6	NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln)	SNV	Uncertain significance	857938		9:101536259-101536259	9:98773977-98773977
35	ANKS6	NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser)	SNV	Uncertain significance	935978		9:101544826-101544826	9:98782544-98782544
36	ANKS6	NM_173551.5(ANKS6):c.907+6C>T	SNV	Uncertain significance	937024		9:101547108-101547108	9:98784826-98784826
37	ANKS6	NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg)	SNV	Uncertain significance	938677		9:101558565-101558565	9:98796283-98796283
38	ANKS6	NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu)	SNV	Uncertain significance	947081		9:101542529-101542529	9:98780247-98780247
39	ANKS6	NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro)	SNV	Uncertain significance	958951		9:101540547-101540547	9:98778265-98778265
40	ANKS6	NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala)	SNV	Uncertain significance	959443		9:101540568-101540568	9:98778286-98778286
41	ANKS6	NM_173551.5(ANKS6):c.1948G>A (p.Gly650Ser)	SNV	Uncertain significance	962630		9:101533202-101533202	9:98770920-98770920
42	ANKS6	NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln)	SNV	Uncertain significance	962631		9:101558767-101558767	9:98796485-98796485
43	ANKS6	NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser)	SNV	Uncertain significance	968826		9:101546248-101546248	9:98783966-98783966
44	ANKS6	NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly)	SNV	Uncertain significance	970672		9:101552398-101552398	9:98790116-98790116
45	ANKS6	NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr)	SNV	Likely benign	767308	rs190075616	9:101536290-101536290	9:98774008-98774008
46	ANKS6	NM_173551.5(ANKS6):c.538C>T (p.Leu180=)	SNV	Likely benign	771090	rs201725414	9:101552710-101552710	9:98790428-98790428
47	ANKS6	NM_173551.5(ANKS6):c.1458T>C (p.Pro486=)	SNV	Likely benign	262841	rs201904871	9:101540617-101540617	9:98778335-98778335
48	ANKS6	NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser)	SNV	Likely benign	707351	rs150567578	9:101540550-101540550	9:98778268-98778268
49	ANKS6	NM_173551.5(ANKS6):c.1611A>C (p.Thr537=)	SNV	Likely benign	719108	rs779026149	9:101539693-101539693	9:98777411-98777411
50	ANKS6	NM_173551.5(ANKS6):c.2094G>A (p.Pro698=)	SNV	Likely benign	720041	rs368311212	9:101530411-101530411	9:98768129-98768129

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 16:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	ANKS6	p.Ala312Pro	VAR_070106
2	ANKS6	p.Gln441Arg	VAR_070108	rs377750405

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Expression for Nephronophthisis 16

Search GEO for disease gene expression data for Nephronophthisis 16.

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Pathways for Nephronophthisis 16

Pathways related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of PLK1 Activity at G2/M Transition ⁶⁵ Show member pathways Anchoring of the basal body to the plasma membrane ⁶⁵ AURKA Activation by TPX2 ⁶⁵ Centrosome maturation ⁶⁵ G2/M Transition ⁶⁵ Interaction between PHLDA1 and AURKA ⁶⁵ Loss of Nlp from mitotic centrosomes ⁶⁵ Loss of proteins required for interphase microtubule organization from the centrosome ⁶⁵ Mitotic G2-G2/M phases ⁶⁵ Polo-like kinase mediated events ⁶⁵ Recruitment of mitotic centrosome proteins and complexes ⁶⁵ Recruitment of NuMA to mitotic centrosomes ⁶⁵	12.54	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 IQCB1
2	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.05	WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3

Sources

GO Terms for Nephronophthisis 16

Cellular components related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.31	WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
2	cytoskeleton	GO:0005856	10	WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1
3	microtubule organizing center	GO:0005815	9.93	SDCCAG8 RPGRIP1L NPHP4 NEK8 IQCB1 CEP290
4	centrosome	GO:0005813	9.92	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NEK9 NEK8
5	cell-cell junction	GO:0005911	9.81	SDCCAG8 RPGRIP1L NPHP4 NPHP1
6	ciliary basal body	GO:0036064	9.8	SDCCAG8 RPGRIP1L NPHP4 CEP290
7	centriole	GO:0005814	9.78	SDCCAG8 IQCB1 CEP83 CEP290
8	cell projection	GO:0042995	9.73	WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3
9	bicellular tight junction	GO:0005923	9.71	RPGRIP1L NPHP4 NPHP1
10	ciliary transition zone	GO:0035869	9.71	TMEM67 RPGRIP1L NPHP4 CEP290
11	photoreceptor connecting cilium	GO:0032391	9.63	WDR19 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
12	ciliary base	GO:0097546	9.56	NPHP4 NEK8
13	non-motile cilium	GO:0097730	9.55	WDR19 NPHP4
14	ciliary inversin compartment	GO:0097543	9.54	NEK8 INVS ANKS6
15	MKS complex	GO:0036038	9.52	TMEM67 CEP290
16	cilium	GO:0005929	9.4	WDR19 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1

Biological processes related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of canonical Wnt signaling pathway	GO:0090090	9.73	NPHP4 NPHP3 INVS BICC1
2	cilium assembly	GO:0060271	9.7	WDR19 TMEM67 RPGRIP1L NPHP3 IQCB1 CEP83
3	determination of left/right symmetry	GO:0007368	9.65	RPGRIP1L NPHP3 NEK8 BICC1 ANKS6
4	kidney development	GO:0001822	9.62	RPGRIP1L NPHP3 BICC1 ANKS6
5	photoreceptor cell maintenance	GO:0045494	9.54	NPHP4 NPHP3 IQCB1
6	cell projection organization	GO:0030030	9.5	WDR19 TMEM67 SDCCAG8 NPHP1 IQCB1 CEP83
7	positive regulation of bicellular tight junction assembly	GO:1903348	9.48	NPHP4 NPHP1
8	maintenance of animal organ identity	GO:0048496	9.46	NPHP3 IQCB1
9	visual behavior	GO:0007632	9.4	NPHP4 NPHP1
10	ciliary basal body-plasma membrane docking	GO:0097711	9.23	TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 IQCB1

Molecular functions related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.53	WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP3

Sources

Sources for Nephronophthisis 16

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 EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Nephronophthisis 16 (NPHP16)

Aliases & Classifications for Nephronophthisis 16

MalaCards integrated aliases for Nephronophthisis 16:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nephronophthisis 16

Related Diseases for Nephronophthisis 16

Diseases in the Nephronophthisis family:

Diseases related to Nephronophthisis 16 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nephronophthisis 16:

Symptoms & Phenotypes for Nephronophthisis 16

Human phenotypes related to Nephronophthisis 16:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Nephronophthisis 16:

Drugs & Therapeutics for Nephronophthisis 16

Genetic Tests for Nephronophthisis 16

Genetic tests related to Nephronophthisis 16:

Anatomical Context for Nephronophthisis 16

MalaCards organs/tissues related to Nephronophthisis 16:

Publications for Nephronophthisis 16

Articles related to Nephronophthisis 16:

Genes for Nephronophthisis 16

Genes related to Nephronophthisis 16 (1 elite genes):

Variations for Nephronophthisis 16

ClinVar genetic disease variations for Nephronophthisis 16:

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 16:

Expression for Nephronophthisis 16

Pathways for Nephronophthisis 16

Pathways related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

GO Terms for Nephronophthisis 16

Cellular components related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

Biological processes related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

Molecular functions related to Nephronophthisis 16 according to GeneCards Suite gene sharing:

Sources for Nephronophthisis 16