Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
KDSR Q06136 3-ketodihydrosphingosine reductase 0.12 0.674 0.538 31
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962 187
AAGAB Q6PD74 alpha and gamma adaptin binding protein 3.9E-07 0.695 0.538 12
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
ATP2A2 P16615 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 Transporter 1.00 0.529 0.808 26
CIB1 Q99828 calcium and integrin binding 1 3.3E-04 0.458 0.769 14
CAST P20810 calpastatin 4.1E-12 0.541 0.846 6
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
CLDN1 O95832 claudin 1 Cell-cell junction 1.0E-03 0.481 0.808 26
CYP4F22 Q6NT55 cytochrome P450 family 4 subfamily F member 22 Enzyme 5.3E-06 0.705 0.462 30
DSG1 Q02413 desmoglein 1 Cell adhesion 0.93 0.606 0.538 14
DSP P15924 desmoplakin Cellular structure 1.00 0.514 0.808 58
ENPP1 P22413 ectonucleotide pyrophosphatase/phosphodiesterase 1 Enzyme 5.0E-08 0.498 0.808 100
EGFR P00533 epidermal growth factor receptor Kinase 0.37 0.295 0.885 15
EXPH5 Q8NEV8 exophilin 5 4.2E-26 0.792 0.154 4
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
GJB3 O75712 gap junction protein beta 3 Cell-cell junction 2.2E-03 0.621 0.462 32
GRHL2 Q6ISB3 grainyhead like transcription factor 2 Transcription factor 1.00 0.590 0.731 12
IL1RN P18510 interleukin 1 receptor antagonist 3.1E-02 0.373 0.923 15
IL36RN Q9UBH0 interleukin 36 receptor antagonist 3.4E-08 0.638 0.538 6
JUP P14923 junction plakoglobin 8.0E-04 0.628 0.500 40
KRT1 P04264 keratin 1 0.74 0.575 0.654 28