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Gene table of MLPH :
melanophilin
Gene-disease associations table
Disease ID
Disease name
Source of annotation with MLPH
OMIM link
Number of associated genes
genes
PS214450
GRISCELLI SYNDROME
ClinVar, OMIM, HUMSAVAR
link to OMIM
3
MYO5A
,
MLPH
,
RAB27A
Download the gene annotation in CSV format
Annotation of the gene MLPH
Associated genes in ENSEMBL
ENSG00000115648
Associated proteins - SwissProt Accession ID
Q9BV36
Associated PDB IDs
Cytogenetic Band
2q37.3
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO term
GO ID
GO IC
cation binding
GO:0043169
1.4
Rab GTPase binding
GO:0017137
4.96
enzyme binding
GO:0019899
2.27
ion binding
GO:0043167
1.36
small GTPase binding
GO:0031267
4.13
GTPase binding
GO:0051020
4.05
binding
GO:0005488
0.18
protein binding
GO:0005515
0.46
metal ion binding
GO:0046872
1.41
Ras GTPase binding
GO:0017016
4.2