horseshoe kidney Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. (Human Phenotype Ontology, HP_0000085)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000085
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Genes

24 genes associated with the horseshoe kidney phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CCBE1 collagen and calcium binding EGF domains 1
CHD7 chromodomain helicase DNA binding protein 7
DKC1 dyskeratosis congenita 1, dyskerin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
HRAS Harvey rat sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
MNX1 motor neuron and pancreas homeobox 1
PAX2 paired box 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RPL11 ribosomal protein L11
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLX4 SLX4 structure-specific endonuclease subunit
STRA6 stimulated by retinoic acid 6
TCTN3 tectonic family member 3
THOC6 THO complex 6