Disease: Generalized hypotonia
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATCAY Q86WG3 ATCAY kinesin light chain interacting caytaxin 0.62 0.805 0.192
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
MCCC1 Q96RQ3 methylcrotonoyl-CoA carboxylase 1 Enzyme 4.0E-12 0.700 0.308
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
PRUNE1 Q86TP1 prune exopolyphosphatase 1 9.1E-03 0.678 0.308
NDUFA11 Q86Y39 NADH:ubiquinone oxidoreductase subunit A11 1.8E-02 0.705 0.308
SLC34A3 Q8N130 solute carrier family 34 member 3 Transporter 5.9E-14 0.695 0.308
LGI4 Q8N135 leucine rich repeat LGI family member 4 7.2E-03 0.678 0.308
ACP2 P11117 acid phosphatase 2, lysosomal Enzyme 6.2E-05 0.780 0.346
NDUFA6 P56556 NADH:ubiquinone oxidoreductase subunit A6 Enzyme 1.3E-04 0.711 0.346
EIF2B3 Q9NR50 eukaryotic translation initiation factor 2B subunit gamma 0.57 0.729 0.346
ETHE1 O95571 ETHE1 persulfide dioxygenase Enzyme 4.6E-06 0.686 0.346
FDX2 Q6P4F2 ferredoxin 2 1.7E-03 0.780 0.346
MMAA Q8IVH4 metabolism of cobalamin associated A 9.4E-13 0.743 0.346
CLCNKA P51800 chloride voltage-gated channel Ka Ion channel 4.2E-17 0.711 0.385
GALE Q14376 UDP-galactose-4-epimerase 1.5E-10 0.722 0.385
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385
GCSH P23434 glycine cleavage system protein H 1.6E-03 0.760 0.385
NDUFA10 O95299 NADH:ubiquinone oxidoreductase subunit A10 Enzyme 6.2E-08 0.678 0.385
NDUFB9 Q9Y6M9 NADH:ubiquinone oxidoreductase subunit B9 Enzyme 1.6E-04 0.700 0.385
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
DPM1 O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 1.6E-04 0.695 0.385
MMADHC Q9H3L0 metabolism of cobalamin associated D 2.1E-05 0.751 0.385
NDUFAF4 Q9P032 NADH:ubiquinone oxidoreductase complex assembly factor 4 0.55 0.686 0.385
LMBRD1 Q9NUN5 LMBR1 domain containing 1 9.0E-11 0.716 0.385