cartilage-hair hypoplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14773)
Similar Terms
Downloads & Tools

Genes

39 genes co-occuring with the disease cartilage-hair hypoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
IL11RA interleukin 11 receptor, alpha 1.62784
NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 1.59519
RPP25 ribonuclease P/MRP 25kDa subunit 1.50755
COL10A1 collagen, type X, alpha 1 1.47198
RNASEH1 ribonuclease H1 1.32017
CCNB2 cyclin B2 1.2992
CDC14A cell division cycle 14A 1.27388
RNASEH2A ribonuclease H2, subunit A 1.17507
RPS19 ribosomal protein S19 0.932484
PTCH2 patched 2 0.928346
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 0.928346
RPS14 ribosomal protein S14 0.915139
TRPS1 trichorhinophalangeal syndrome I 0.862228
SOX4 SRY (sex determining region Y)-box 4 0.772479
ADA adenosine deaminase 0.734622
NME1 NME/NM23 nucleoside diphosphate kinase 1 0.732596
SBDS Shwachman-Bodian-Diamond syndrome 0.697911
LHCGR luteinizing hormone/choriogonadotropin receptor 0.686691
TFAM transcription factor A, mitochondrial 0.575772
BBS2 Bardet-Biedl syndrome 2 0.535022
UCP1 uncoupling protein 1 (mitochondrial, proton carrier) 0.526904
L1CAM L1 cell adhesion molecule 0.493885
IL11 interleukin 11 0.491597
JAK3 Janus kinase 3 0.46655
RAG1 recombination activating gene 1 0.457109
IGFBP3 insulin-like growth factor binding protein 3 0.45447
PLK1 polo-like kinase 1 0.449947
DICER1 dicer 1, ribonuclease type III 0.447687
RAG2 recombination activating gene 2 0.43753
OAT ornithine aminotransferase 0.399334
EDNRB endothelin receptor type B 0.387051
RET ret proto-oncogene 0.352291
CD79A CD79a molecule, immunoglobulin-associated alpha 0.344574
FHIT fragile histidine triad 0.340173
DNM2 dynamin 2 0.337242
FTL ferritin, light polypeptide 0.246448
MMP13 matrix metallopeptidase 13 0.241546
TERT telomerase reverse transcriptase 0.208245
CD4 CD4 molecule 0.19582