intellectual disability, progressive Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. (Human Phenotype Ontology, HP_0006887)
External Link
Similar Terms
Downloads & Tools


38 genes associated with the intellectual disability, progressive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
AP4M1 adaptor-related protein complex 4, mu 1 subunit
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
CC2D1A coiled-coil and C2 domain containing 1A
CDKL5 cyclin-dependent kinase-like 5
CTSD cathepsin D
DMPK dystrophia myotonica-protein kinase
GCH1 GTP cyclohydrolase 1
HCCS holocytochrome c synthase
KAT6B K(lysine) acetyltransferase 6B
KDM5C lysine (K)-specific demethylase 5C
L2HGDH L-2-hydroxyglutarate dehydrogenase
MECP2 methyl CpG binding protein 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NKX2-5 NK2 homeobox 5
OFD1 oral-facial-digital syndrome 1
PEX1 peroxisomal biogenesis factor 1
PTS 6-pyruvoyltetrahydropterin synthase
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNAP29 synaptosomal-associated protein, 29kDa
SRD5A3 steroid 5 alpha-reductase 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TCF4 transcription factor 4
TK2 thymidine kinase 2, mitochondrial
TSHB thyroid stimulating hormone, beta
UBE3A ubiquitin protein ligase E3A
UROC1 urocanate hydratase 1
WDR81 WD repeat domain 81
ZNF592 zinc finger protein 592