Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

NEPHROCYSTIN 1
Synonyms

NPH1

JOUBERT SYNDROME 4

SENIOR-LOKEN SYNDROME 1

NPHP1

NEPHRONOPHTHISIS 1

ID

http://purl.bioontology.org/ontology/OMIM/607100

altLabel

NPH1

JOUBERT SYNDROME 4

SENIOR-LOKEN SYNDROME 1

NPHP1

NEPHRONOPHTHISIS 1

cui

C1846790

C4551559

C1855681

C1417782

Gene Locus

2q13

Gene Symbol

SLSN1

JBTS4

NPH1

NPHP1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607100.0005

http://purl.bioontology.org/ontology/OMIM/607100.0002

http://purl.bioontology.org/ontology/OMIM/607100.0001

http://purl.bioontology.org/ontology/OMIM/607100.0003

http://purl.bioontology.org/ontology/OMIM/607100.0004

MIMTYPEMEANING

Gene with known sequence

notation

607100

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NEPHROCYSTIN 1

tui

T047

T028

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