Disease: Arachnodactyly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BCR P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 0.99 0.431 0.885
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
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
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
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CRKL P46109 CRK like proto-oncogene, adaptor protein 0.45 0.553 0.769
EFEMP2 O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 8.2E-03 0.559 0.692
ELN P15502 elastin 2.1E-14 0.415 0.885
FBLN5 Q9UBX5 fibulin 5 Calcium-binding protein 1.00 0.546 0.692
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
PRDM5 Q9NQX1 PR/SET domain 5 3.6E-10 0.621 0.654
PTCH1 Q13635 patched 1 1.00 0.398 0.885