Disease Term Disease ID Gene Symbol References
Keratoderma, Palmoplantar C4551675 ACTC1
ACTN2
AKT1
ALOX12B
AQP5
ATP2A2
BRAF
CAST
CD28
CTSC 11106356
COL17A1
CRYAB
CSTA
CTLA4
DES
DKC1
DMD
DSC2
DSG1
DSG2
DSP
FKTN
FGFR2
FHL2
KDSR
GJA1 25398053, 16891658
GJB2 16172043
HPGD
ITGB4
JUP
KRAS
KRT1 17255957
KRT2
KRT5
KRT6A
KRT6B
KRT9
KRT10 25495838, 7508181
KRT14 9804355
KRT16
KRT17
KRT83
LAMA3
LAMA4
LAMB3
LAMC2
LORICRIN
TRNS1
MYBPC3
MYH6
MYH7
PARN
ENPP1
PEPD
PIK3CA
PKP1
PLN
MAP2K1
MAP2K2
PSEN1
PSEN2
PTEN
RAF1
SCN5A
SDHA
SDHB
SDHC
SDHD
SGCD
SLCO2A1
TAT
WWTR1
TERC
TERT
TGM1
TMPO
TNFRSF1B
TNNC1
TNNI3
TNNT2
TPM1
TTN
COL14A1
VCL
CSRP3
AAAS
TCAP
TP63
SERPINB7
TAF1A
SNAP29
RECQL4
BAG3
ABCC9
SEC23B
CAP2
NEBL
TXNRD2
GJB6
LDB3
DOLK
NLRP1
SASH1
LEMD3
KANK2
ABCA12
TINF2
ANKRD1
GMPPA
MBTPS2
POMP
RTEL1
TRPM4
WRAP53
NOP10
FERMT1
NHP2
SMARCAD1 24909267, 24664640
SLURP1 19120323, 15026760, 25168896
MCOLN1
GATAD1
ALOXE3
TRAPPC11
PRDM16
PERP
CARD14
SRD5A3
USB1
RHBDF2
PPCS
AAGAB 23064416
CTC1
WNT10A
MYPN
NEXN
GJB4
TRPV3
CERS3
RBM20
RSPO1
PNPLA1
KRT6C
NIPAL4
FAM83G 29138053
KLLN
Keratoderma, Palmoplantar, Diffuse C0022584 AQP5
KRT1 7528239, 11286630
KRT14
SNAP29
KLHL24
SLURP1 15026760, 19120323
Keratoderma, Palmoplantar, Norrbotten Recessive Type C1855644 SLURP1 24604124
Palmoplantar keratoderma Nagashima type C3810072 SERPINB7 28211129, 24207119
Palmoplantar keratoderma, Nagashima type 140966 SERPINB7