Disease: Global developmental delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MTR Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase 2.4E-12 0.482 0.808
MTRR Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 2.2E-14 0.502 0.808
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
ADPRS Q9NX46 ADP-ribosylserine hydrolase 5.8E-04 0.743 0.308
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ALG11 Q2TAA5 ALG11 alpha-1,2-mannosyltransferase 6.2E-09 0.722 0.346
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
NAGA P17050 alpha-N-acetylgalactosaminidase 1.8E-11 0.647 0.538
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
APP P05067 amyloid beta precursor protein Enzyme modulator 4.7E-02 0.422 0.846
APOE P02649 apolipoprotein E 1.9E-03 0.338 0.962
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
RSRC1 Q96IZ7 arginine and serine rich coiled-coil 1 7.5E-05 0.650 0.462
AVP P01185 arginine vasopressin Signaling 7.4E-02 0.437 0.846
RARS1 P54136 arginyl-tRNA synthetase 1 3.3E-08 0.604 0.538
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462