MCID: RTN223
MIFTS: 9

Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

MalaCards integrated aliases for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene:

Name: Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene 58 6
Retinal Ciliopathy Due to Mutation in Rp1 Gene 58

Classifications:



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Orphanet 58 ORPHA156168

Summaries for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

MalaCards based summary : Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene, also known as retinal ciliopathy due to mutation in rp1 gene, is related to retinal ciliopathy and retinitis pigmentosa. An important gene associated with Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene is IFT140 (Intraflagellar Transport 140).

Related Diseases for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Graphical network of the top 20 diseases related to Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene:



Diseases related to Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene

Symptoms & Phenotypes for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Drugs & Therapeutics for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Search Clinical Trials , NIH Clinical Center for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene

Genetic Tests for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Anatomical Context for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Publications for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Variations for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

ClinVar genetic disease variations for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs)duplication Pathogenic 523182 rs1555474009 16:1561094-1561095 16:1511093-1511094
2 IFT140 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)SNV Pathogenic/Likely pathogenic 31683 rs201188361 16:1642177-1642177 16:1592176-1592176

Expression for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Search GEO for disease gene expression data for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene.

Pathways for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

GO Terms for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

Sources for Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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50 NDF-RT
53 NINDS
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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