slender long bone Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced diameter of a long bone. (Human Phenotype Ontology, HP_0003100)
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24 genes associated with the slender long bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CCDC8 coiled-coil domain containing 8
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CUL7 cullin 7
DOK7 docking protein 7
ERCC1 excision repair cross-complementation group 1
FAM111A family with sequence similarity 111, member A
GLE1 GLE1 RNA export mediator
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
OBSL1 obscurin-like 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAPSN receptor-associated protein of the synapse
SCARF2 scavenger receptor class F, member 2
TBCE tubulin folding cofactor E