MCID: PLR010
MIFTS: 8

Polr1c-Related Treacher Collins Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Polr1c-Related Treacher Collins Syndrome

MalaCards integrated aliases for Polr1c-Related Treacher Collins Syndrome:

Name: Polr1c-Related Treacher Collins Syndrome 24
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive 69
Treacher Collins Syndrome 3 24
Tcs3 24

Classifications:



Summaries for Polr1c-Related Treacher Collins Syndrome

MalaCards based summary : Polr1c-Related Treacher Collins Syndrome, also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive, is related to treacher collins syndrome 3. An important gene associated with Polr1c-Related Treacher Collins Syndrome is POLR1C (RNA Polymerase I Subunit C).

Related Diseases for Polr1c-Related Treacher Collins Syndrome

Diseases in the Treacher Collins Syndrome 1 family:

Treacher Collins Syndrome 3 Treacher Collins Syndrome 2
Polr1c-Related Treacher Collins Syndrome Polr1d-Related Treacher Collins Syndrome
Tcof1-Related Treacher Collins Syndrome

Diseases related to Polr1c-Related Treacher Collins Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 treacher collins syndrome 3 11.0

Symptoms & Phenotypes for Polr1c-Related Treacher Collins Syndrome

Drugs & Therapeutics for Polr1c-Related Treacher Collins Syndrome

Search Clinical Trials , NIH Clinical Center for Polr1c-Related Treacher Collins Syndrome

Genetic Tests for Polr1c-Related Treacher Collins Syndrome

Genetic tests related to Polr1c-Related Treacher Collins Syndrome:

id Genetic test Affiliating Genes
1 Polr1c-Related Treacher Collins Syndrome 24 POLR1C

Anatomical Context for Polr1c-Related Treacher Collins Syndrome

Publications for Polr1c-Related Treacher Collins Syndrome

Variations for Polr1c-Related Treacher Collins Syndrome

Expression for Polr1c-Related Treacher Collins Syndrome

Search GEO for disease gene expression data for Polr1c-Related Treacher Collins Syndrome.

Pathways for Polr1c-Related Treacher Collins Syndrome

GO Terms for Polr1c-Related Treacher Collins Syndrome

Sources for Polr1c-Related Treacher Collins Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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