Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
COL5A2 P05997 collagen type V alpha 2 chain 1.00 0.568 0.731
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CTNND2 Q9UQB3 catenin delta 2 Cellular structure 1.00 0.579 0.731
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
ELP1 O95163 elongator complex protein 1 Enzyme modulator 2.1E-21 0.579 0.769
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FKBP14 Q9NWM8 FKBP prolyl isomerase 14 1.5E-06 0.650 0.654
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885