Profound Global Developmental Delay Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3553450
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Genes

57 genes associated with the disease Profound Global Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
CAMK2B calcium/calmodulin-dependent protein kinase II beta
COG7 component of oligomeric golgi complex 7
CRIPT cysteine-rich PDZ-binding protein
DENND5A DENN/MADD domain containing 5A
EXOSC3 exosome component 3
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FOXP1 forkhead box P1
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
LIAS lipoic acid synthetase
LIPT2 lipoyl(octanoyl) transferase 2 (putative)
MEFV Mediterranean fever
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDE1 nudE neurodevelopment protein 1
OPA1 optic atrophy 1 (autosomal dominant)
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PGAP3 post-GPI attachment to proteins 3
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRUNE1 prune exopolyphosphatase 1
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
QARS1 glutaminyl-tRNA synthetase 1
SETBP1 SET binding protein 1
SLC39A8 solute carrier family 39 (zinc transporter), member 8
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
TBCK TBC1 domain containing kinase
TELO2 telomere maintenance 2
UBA5 ubiquitin-like modifier activating enzyme 5
UNC80 unc-80 homolog (C. elegans)
WDR4 WD repeat domain 4
ZNF335 zinc finger protein 335