Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769 163
ENPP1 P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 5.0E-08 0.498 0.808 100
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 58
WNT10A Q9GZT5 Wnt family member 10A Signaling 4.2E-09 0.547 0.731 52
TGM1 P22735 transglutaminase 1 Enzyme 2.3E-13 0.565 0.769 50
ALOX12B O75342 arachidonate 12-lipoxygenase, 12R type Enzyme 7.6E-04 0.603 0.577 42
ALOXE3 Q9BYJ1 arachidonate lipoxygenase 3 Enzyme 5.1E-20 0.644 0.538 42
JUP P14923 junction plakoglobin 8.0E-04 0.628 0.500 40
NIPAL4 Q0D2K0 NIPA like domain containing 4 1.4E-03 0.682 0.423 36
GJB3 O75712 gap junction protein beta 3 Cell-cell junction 2.2E-03 0.621 0.462 32
KDSR Q06136 3-ketodihydrosphingosine reductase 0.12 0.674 0.538 31
LIPN Q5VXI9 lipase family member N 3.1E-05 0.736 0.423 31
CYP4F22 Q6NT55 cytochrome P450 family 4 subfamily F member 22 Enzyme 5.3E-06 0.705 0.462 30
NLRP1 Q9C000 NLR family pyrin domain containing 1 5.0E-19 0.502 0.769 30
SMARCAD1 Q9H4L7 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Enzyme 1.00 0.656 0.423 29
KRT1 P04264 keratin 1 0.74 0.575 0.654 28
ATP2A2 P16615 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Transporter 1.00 0.529 0.808 26
CLDN1 O95832 claudin 1 Cell-cell junction 1.0E-03 0.481 0.808 26
CARD14 Q9BXL6 caspase recruitment domain family member 14 1.2E-19 0.546 0.846 22
CERS3 Q8IU89 ceramide synthase 3 5.7E-03 0.705 0.308 18
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 15
IL1RN P18510 interleukin 1 receptor antagonist 3.1E-02 0.373 0.923 15