Gene: CLUAP1

Alternate names for this Gene: CFAP22|FAP22|IFT38

Gene Summary: The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: clusterin associated protein 1

Type of Gene: protein-coding

rs768663992 in CLUAP1 gene and 2-3 toe syndactyly PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs768663992 in CLUAP1 gene and Abnormality of the dentition PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs3751837 in CLUAP1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs138922864 in CLUAP1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs768663992 in CLUAP1 gene and Familial aplasia of the vermis PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs3751837 in CLUAP1 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs768663992 in CLUAP1 gene and Global developmental delay PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs768663992 in CLUAP1 gene and Muscle hypotonia PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

rs3751837 in CLUAP1 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.