Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNL1 tRNA 0.534 0.731
TRNS1 tRNA 0.555 0.808
HYMAI hydatidiform mole associated and imprinted 0.670 0.538
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
NDUFA4 O00483 NDUFA4 mitochondrial complex associated Enzyme 2.4E-02 0.695 0.462
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
SNAI2 O43623 snail family transcriptional repressor 2 0.80 0.505 0.692
NDUFA2 O43678 NADH:ubiquinone oxidoreductase subunit A2 Enzyme 0.77 0.617 0.577
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769