Disease: Arachnodactyly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA2 P62736 actin alpha 2, smooth muscle Cellular structure 0.93 0.508 0.846
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769
BCR P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 0.99 0.431 0.885
CBS P0DN79 P35520 cystathionine beta-synthase Enzyme 3.1E-05 0.465 0.885
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
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
DSE Q9UL01 dermatan sulfate epimerase 0.63 0.700 0.462
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
FLNA P21333 filamin A 1.00 0.419 0.846
FOXE3 Q13461 forkhead box E3 Transcription factor 0.18 0.568 0.654
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
LOX P28300 lysyl oxidase 0.99 0.447 0.846
MAPK1 P28482 mitogen-activated protein kinase 1 Kinase 1.00 0.330 0.923
MAT2A P31153 methionine adenosyltransferase 2A Enzyme 1.00 0.615 0.654
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769