clubbing Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. (Human Phenotype Ontology, HP_0001217)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001217
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Genes

40 genes associated with the clubbing phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ACVRL1 activin A receptor type II-like 1
ARID1B AT rich interactive domain 1B (SWI1-like)
BMPR1A bone morphogenetic protein receptor, type IA
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
ENG endoglin
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FLNB filamin B, beta
GJB6 gap junction protein, beta 6, 30kDa
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
KRT10 keratin 10, type I
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
NOTCH2 notch 2
PALB2 partner and localizer of BRCA2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTH1R parathyroid hormone 1 receptor
RAD51C RAD51 paralog C
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
SFTPA2 surfactant protein A2
SFTPB surfactant protein B
SFTPC surfactant protein C
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
STK11 serine/threonine kinase 11
TCF4 transcription factor 4