Diastrophic Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_14687)
External Link https://www.disgenet.org/browser/0/1/0/C0220726
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Genes

56 genes associated with the disease Diastrophic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
APOE apolipoprotein E
ARL13B ADP-ribosylation factor-like 13B
BBS2 Bardet-Biedl syndrome 2
BBS5 Bardet-Biedl syndrome 5
BBS9 Bardet-Biedl syndrome 9
CCHCR1 coiled-coil alpha-helical rod protein 1
CEP290 centrosomal protein 290kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLOCK clock circadian regulator
CNR1 cannabinoid receptor 1 (brain)
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRY1 cryptochrome circadian clock 1
CSF1R colony stimulating factor 1 receptor
DTD1 D-tyrosyl-tRNA deacylase 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FGFR3 fibroblast growth factor receptor 3
FN1 fibronectin 1
GSTK1 glutathione S-transferase kappa 1
HPGDS hematopoietic prostaglandin D synthase
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL2 interleukin 2
IL6 interleukin 6
KIAA0586 KIAA0586
LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OTP orthopedia homeobox
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PER3 period circadian clock 3
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
SAT1 spermidine/spermine N1-acetyltransferase 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SELENBP1 selenium binding protein 1
SHBG sex hormone-binding globulin
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SLC26A7 solute carrier family 26 (anion exchanger), member 7
SLC38A1 solute carrier family 38, member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SOD1 superoxide dismutase 1, soluble
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
THOC5 THO complex 5
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TRAPPC3 trafficking protein particle complex 3
WDR19 WD repeat domain 19