Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CCDC115 Q96NT0 coiled-coil domain containing 115 1.2E-07 0.743 0.308
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
MMAA Q8IVH4 metabolism of cobalamin associated A 9.4E-13 0.743 0.346
TSFM P43897 Ts translation elongation factor, mitochondrial Nucleic acid binding 1.9E-09 0.736 0.423
COQ7 Q99807 coenzyme Q7, hydroxylase 3.8E-06 0.736 0.462
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
GTPBP2 Q9BX10 GTP binding protein 2 Enzyme 0.32 0.736 0.423
MICOS13 Q5XKP0 mitochondrial contact site and cristae organizing system subunit 13 8.3E-04 0.736 0.346
TBC1D23 Q9NUY8 TBC1 domain family member 23 1.8E-05 0.729 0.308
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
TARS2 Q9BW92 threonyl-tRNA synthetase 2, mitochondrial Enzyme 1.2E-12 0.729 0.423
ATPAF2 Q8N5M1 ATP synthase mitochondrial F1 complex assembly factor 2 2.2E-09 0.729 0.423
GALE Q14376 UDP-galactose-4-epimerase 1.5E-10 0.722 0.385
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
RNF13 O43567 ring finger protein 13 4.0E-04 0.722 0.346
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
UQCRQ O14949 ubiquinol-cytochrome c reductase complex III subunit VII 4.8E-02 0.722 0.308
MRPS34 P82930 mitochondrial ribosomal protein S34 2.6E-03 0.722 0.346
SNX27 Q96L92 sorting nexin 27 1.00 0.722 0.346
NAT8L Q8N9F0 N-acetyltransferase 8 like 0.86 0.722 0.346
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231
SLC35A3 Q9Y2D2 solute carrier family 35 member A3 Transporter 2.6E-03 0.716 0.308
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423
LMBRD1 Q9NUN5 LMBR1 domain containing 1 9.0E-11 0.716 0.385