Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCB7 O75027 ATP binding cassette subfamily B member 7 Transporter 1.00 0.678 0.385
ACOX1 Q15067 acyl-CoA oxidase 1 Enzyme 6.2E-02 0.610 0.731
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DUOXA2 Q1HG44 dual oxidase maturation factor 2 1.3E-15 0.700 0.423
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654
HBA1 P69905 hemoglobin subunit alpha 1 6.7E-03 0.508 0.808
HBA2 P69905 hemoglobin subunit alpha 2 3.1E-03 0.512 0.808
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
KCNJ10 P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 0.15 0.599 0.654
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MOGS Q13724 mannosyl-oligosaccharide glucosidase 5.8E-11 0.626 0.731
MRPS22 P82650 mitochondrial ribosomal protein S22 1.5E-05 0.638 0.500
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808