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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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27031
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Nephrocystin 3 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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NPHP3 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3 |
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Chromosome
Chromosome number
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3 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q22.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it |
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Meckel-Like Syndrome |
nphp3-related meckel-like syndrome |
rs201237799, rs1576660495, rs267606916, rs751527253, rs119456961, rs119456962, rs780020801 |
N/A |
| Nephronophthisis |
nephronophthisis, nephronophthisis 3 |
rs1560002147, rs763300393, rs771215577, rs758238787, rs780020801, rs771742823, rs267606916, rs201237799, rs1576660495, rs182135982, rs119456959, rs758498695, rs773521620, rs1560017690, rs759262253, rs119456960, rs1456714047, rs1379989124, rs1560002113, rs119456961, rs1485445500, rs1939543636, rs1553773271, rs398124546, rs780148543, rs751527253, rs747052534, rs1576682880, rs368138001, rs869312915, rs119456962, rs1560000875, rs758558609, rs1060499938 View all (19 more) |
N/A |
| RENAL-HEPATIC-PANCREATIC DYSPLASIA |
renal-hepatic-pancreatic dysplasia 1 |
rs119456963, rs780020801, rs119456964, rs751527253 |
N/A |
| Joubert Syndrome |
Joubert syndrome and related disorders |
rs267606916, rs1456714047, rs398124546, rs1553773296 |
N/A |
| polycystic kidney disease |
Polycystic kidney disease |
rs751527253 |
N/A |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Bardet-Biedl Syndrome |
bardet-biedl syndrome |
N/A |
N/A |
ClinVar |
| Bipolar Disorder |
Bipolar disorder |
N/A |
N/A |
GWAS |
| Dementia |
Dementia |
N/A |
N/A |
GWAS |
| focal segmental glomerulosclerosis |
Focal segmental glomerulosclerosis |
N/A |
N/A |
ClinVar |
| Gout |
Gout |
N/A |
N/A |
GWAS |
| Hemolytic Uremic Syndrome |
Atypical hemolytic-uremic syndrome |
N/A |
N/A |
ClinVar |
| Leber Congenital Amaurosis |
leber congenital amaurosis |
N/A |
N/A |
ClinVar |
| Meckel-Gruber Syndrome |
meckel-gruber syndrome |
N/A |
N/A |
ClinVar |
| Optic Atrophy |
optic atrophy |
N/A |
N/A |
ClinVar |
| retinal dystrophy |
Retinal dystrophy |
N/A |
N/A |
ClinVar |
| Senior-Loken Syndrome |
Senior-Loken syndrome |
N/A |
N/A |
GenCC |
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