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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Nephronophthisis 7 (C566930)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..Nephronophthisis 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7885

Name:

Nephronophthisis 7

Definition:

Alternative IDs:

OMIM:611498

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/C566930 |C13.351.968.419.403/C566930

Synonyms:

NPHP7

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C566930
MeSH: C566930
OMIM: 611498;

Genes: GLIS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000090	Nephronophthisis
3	HP:0000092	Renal tubular atrophy
4	HP:0003774	Stage 5 chronic kidney disease

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_001318918.1(GLIS2):c.523T>C (p.Cys175Arg)	84662	GLIS2	Pathogenic	587777353	RCV000115016;	N	MedGen:C1969092,OMIM:611498	16	4385061	4385061	NM_001318918.1:c.523T>C	NP_001305847.1:p.Cys175Arg	16:g.4385061T>C	OMIM Allelic Variant:608539.0002	C1969092 611498 Nephronophthisis 7