Disease: Short stature
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACP5 P13686 acid phosphatase 5, tartrate resistant 7.9E-02 0.561 0.731
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AIMP2 Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 8.0E-03 0.393 0.923
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CCN6 O95389 cellular communication network factor 6 Signaling 6.2E-04 0.568 0.731
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
CTDP1 Q9Y5B0 CTD phosphatase subunit 1 Enzyme 6.0E-04 0.641 0.577
DLL3 Q9NYJ7 delta like canonical Notch ligand 3 5.4E-05 0.552 0.654
DNA2 P51530 DNA replication helicase/nuclease 2 1.3E-18 0.626 0.731
DSTYK Q6XUX3 dual serine/threonine and tyrosine protein kinase Kinase 0.51 0.700 0.462
ELN P15502 elastin 2.1E-14 0.415 0.885
ERCC1 P07992 ERCC excision repair 1, endonuclease non-catalytic subunit Enzyme 1.6E-07 0.445 0.846
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808