Renpenning Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (Human Disease Ontology, DOID_0060179)
External Link https://www.disgenet.org/browser/0/1/0/C0796135
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Genes

19 genes associated with the disease Renpenning Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
DLG3 discs, large homolog 3 (Drosophila)
FMR1 fragile X mental retardation 1
G6PD glucose-6-phosphate dehydrogenase
GRAP2 GRB2-related adaptor protein 2
GSTM2 glutathione S-transferase mu 2 (muscle)
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IL1B interleukin 1, beta
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PQBP1 polyglutamine binding protein 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RUNX2 runt-related transcription factor 2
SIRT1 sirtuin 1
STS steroid sulfatase (microsomal), isozyme S
TNF tumor necrosis factor