refsum disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_10582)
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Genes

78 genes co-occuring with the disease refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PHYH phytanoyl-CoA 2-hydroxylase 2.86796
PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein 2.21805
PEX7 peroxisomal biogenesis factor 7 1.74869
GNPAT glyceronephosphate O-acyltransferase 1.62828
SH3GLB2 SH3-domain GRB2-like endophilin B2 1.4465
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.3145
SCP2 sterol carrier protein 2 1.29833
HACL1 2-hydroxyacyl-CoA lyase 1 1.2382
CAT catalase 1.23169
PIPOX pipecolic acid oxidase 1.15198
SACS sacsin molecular chaperone 1.10258
FRRS1L ferric-chelate reductase 1-like 1.05471
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble) 1.03914
AMACR alpha-methylacyl-CoA racemase 1.02861
CROT carnitine O-octanoyltransferase 1.01891
MID1 midline 1 1.00794
GLMN glomulin, FKBP associated protein 0.995705
ATCAY ataxia, cerebellar, Cayman type 0.975482
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 0.9717
HAO2 hydroxyacid oxidase 2 (long chain) 0.931242
CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3 0.924213
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 0.902389
TTPA tocopherol (alpha) transfer protein 0.892129
STS steroid sulfatase (microsomal), isozyme S 0.890898
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.88434
HAO1 hydroxyacid oxidase (glycolate oxidase) 1 0.879424
ACOX1 acyl-CoA oxidase 1, palmitoyl 0.853221
CCDC62 coiled-coil domain containing 62 0.849945
ADGRB1 adhesion G protein-coupled receptor B1 0.838885
PEX2 peroxisomal biogenesis factor 2 0.799513
NPTX2 neuronal pentraxin II 0.776977
PEX14 peroxisomal biogenesis factor 14 0.77575
TMEM245 transmembrane protein 245 0.727738
CYP4A11 cytochrome P450, family 4, subfamily A, polypeptide 11 0.720461
ACAA1 acetyl-CoA acyltransferase 1 0.715215
AGXT alanine-glyoxylate aminotransferase 0.701928
ACO2 aconitase 2, mitochondrial 0.697109
CYP20A1 cytochrome P450, family 20, subfamily A, polypeptide 1 0.6791
MYO5A myosin VA (heavy chain 12, myoxin) 0.641827
CRAT carnitine O-acetyltransferase 0.630813
ASL argininosuccinate lyase 0.616312
SLC25A17 solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 0.60108
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain 0.59991
FFAR1 free fatty acid receptor 1 0.553239
ACSL1 acyl-CoA synthetase long-chain family member 1 0.524974
GCDH glutaryl-CoA dehydrogenase 0.522659
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 0.498085
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 0.490454
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial 0.489691
ASPA aspartoacylase 0.454093
KRT1 keratin 1, type II 0.420641
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.403811
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 0.396353
FKBP4 FK506 binding protein 4, 59kDa 0.394118
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.387794
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.377031
RPS19 ribosomal protein S19 0.362609
RICTOR RPTOR independent companion of MTOR, complex 2 0.36187
C10ORF2 chromosome 10 open reading frame 2 0.336876
BBS2 Bardet-Biedl syndrome 2 0.335046
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.321181
TGM1 transglutaminase 1 0.321181
MDH1 malate dehydrogenase 1, NAD (soluble) 0.307033
WDFY2 WD repeat and FYVE domain containing 2 0.301615
POLG polymerase (DNA directed), gamma 0.297291
ADRB1 adrenoceptor beta 1 0.286877
PPARA peroxisome proliferator-activated receptor alpha 0.286519
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 0.274376
TPMT thiopurine S-methyltransferase 0.266558
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 0.26514
GHR growth hormone receptor 0.239101
MGAM maltase-glucoamylase 0.238054
CS citrate synthase 0.217693
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.199033
APOC3 apolipoprotein C-III 0.197099
APOA1 apolipoprotein A-I 0.192657
AHSG alpha-2-HS-glycoprotein 0.178126
LCAT lecithin-cholesterol acyltransferase 0.165217