NPHP1

nephrocystin 1

4 disorders 3 untyped 1 causative 2q13 gene with protein product

HGNC:7905 Monarch NCBI Gene 4867 ENSG00000144061 UniProt O15259 OMIM 607100

Previous symbols: NPH1. Aliases: JBTS4, SLSN1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Senior-Loken Syndrome	causative	mechanism: Ciliary Transition Zone Dysfunction subtype: SLSN1 scoped to subtype: SLSN1
Bardet-Biedl syndrome	untyped Pathogenic biallelic variants	mechanism: Ciliary transition zone and basal body dysfunction
Joubert syndrome	untyped Causative	mechanism: Renal tubular ciliary dysfunction scoped to subtype: Joubert syndrome with renal defect
Nephronophthisis	untyped Pathogenic Variants	mechanism: Ciliary Dysfunction; DNA Damage and Senescence subtype: NPHP1-related scoped to subtype: NPHP1-related

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
nephronophthisis 1 MONDO:0009728	AR	Definitive 2021-01-27	Nephronophthisis untyped

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Bardet-Biedl syndrome, Joubert syndrome, Nephronophthisis, Senior-Loken Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.