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 59 6
Retinal Ciliopathy Due to Mutation in Rp1 Gene 59

Classifications:



External Ids:

Orphanet 59 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 retinitis pigmentosa 80 and joubert syndrome with jeune asphyxiating thoracic dystrophy. 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...

Diseases in the Retinal Ciliopathy family:

Retinal Ciliopathy Due to Mutation in Nephronophthisis Gene Retinal Ciliopathy Due to Mutation in Bardet-Biedl Gene
Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene Retinal Ciliopathy Due to Mutation in the Rpgr Gene
Retinal Ciliopathy Due to Mutation in the Rpgrip Gene Retinal Ciliopathy Due to Mutation in Usher Gene

Diseases related to Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 80 9.5 LOC105371046 IFT140
2 joubert syndrome with jeune asphyxiating thoracic dystrophy 9.4 LOC105371046 IFT140
3 retinitis pigmentosa 9.2 LOC105371046 IFT140

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:

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# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140): c.4236_4239dup (p.Tyr1414fs) duplication Pathogenic rs1555474009 16:1561095-1561098 16:1511094-1511097
2 IFT140 NM_014714.4(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic/Likely pathogenic 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
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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