Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ABCA1 O95477 ATP binding cassette subfamily A member 1 Transporter 1.5E-13 0.467 0.846 291 116
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500 61 13
ANTXR1 Q9H6X2 ANTXR cell adhesion molecule 1 Receptor 0.99 0.584 0.731 137 22
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 270 90
ATL1 Q8WXF7 atlastin GTPase 1 Enzyme modulator 0.98 0.593 0.654 112 26
BMP4 P12644 bone morphogenetic protein 4 Signaling 0.96 0.422 0.808 423 21
COL17A1 Q9UMD9 collagen type XVII alpha 1 chain 2.3E-27 0.545 0.769 138 28
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 160 87
CTC1 Q2NKJ3 CST telomere replication complex component 1 1.6E-11 0.601 0.538 121 24
DPM1 O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 1.6E-04 0.695 0.385 57 7
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 191 152
DYNC2LI1 Q8TCX1 dynein cytoplasmic 2 light intermediate chain 1 Cellular structure 3.2E-09 0.601 0.500 97 24
EDAR Q9UNE0 ectodysplasin A receptor 1.3E-06 0.623 0.423 69 36
EDARADD Q8WWZ3 EDAR associated death domain 3.2E-04 0.638 0.462 66 9
EVC P57679 EvC ciliary complex subunit 1 3.5E-25 0.587 0.577 104 65
EVC2 Q86UK5 EvC ciliary complex subunit 2 1.0E-34 0.585 0.692 106 75
EXT2 Q93063 exostosin glycosyltransferase 2 Enzyme 1.3E-09 0.576 0.654 137 34
FLNA P21333 filamin A 1.00 0.419 0.846 571 85
FZD1 Q9UP38 frizzled class receptor 1 G-protein coupled receptor 4.2E-02 0.587 0.615 77 0
FZD5 Q13467 frizzled class receptor 5 G-protein coupled receptor 0.98 0.587 0.615 82 0
FZD6 O60353 frizzled class receptor 6 G-protein coupled receptor 2.0E-12 0.623 0.615 57 4
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 662 37
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846 392 132
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808 176 14