Ichthyosis

Disease Term Disease ID Gene Symbol References
Autosomal dominant ichthyosis C1274214 KRT2
Bathing suit ichthyosis C4511230, 100976 TGM1 16968736
Harlequin type ichthyosis C0598226 ABCA12 16675967, 16902423, 19179616
SNHG31
Ichthyoses C0020757 AHSG
ALDH3A2
ALOX12B
STS
ARSL
BLM
BRAF
CHKB
AP1S1
COL4A5
COL7A1
CSTA
DCC
DUSP6
EMD
ERCC2
ERCC3
FGF8
FGFR1
FHL1
FLG
GBA
GJB2 16172043
GTF2E2
HRAS
IL2RB
ITGB6
ANOS1
KRAS
KRT1
KRT2
KRT6A
KRT6B
KRT14
KRT16
KRT17
LMNA
COX1
COX2
COX3
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
NRAS
PEX1
PEX6
PEX7
PEX10
PEX12
PEX13
PEX14
PHYH
MAP2K1
MAP2K2
PEX19
PEX2
PEX5
MSMO1
SOX10
SRP54
ST14
ELOVL4
STIM1
SULT2B1
SUPV3L1 19145458
TACR3
TARS1
TGM1
RNF113A
PEX3
PEX11B
HESX1
FGF17
SGPL1 28165339
CLDN1
TGM5
SNAP29
HS6ST1
PEX16
PIGL
MPDU1
GINS1
SEMA3A
EBP
GJB6
SLC27A4
DOLK
SYNE2
SYNE1
FLRT3
NSMF
ABCA12
PHGDH
VPS33B
PSAT1
SBDS
MBTPS2
POMP
IL17RD
SLC29A3
CHD7
PEX26
WDR11
SLURP1
ALOXE3
PROK2
VIPAS39
NOD2
CARD14
TMEM43
EFL1
SRD5A3
SPRY4
KISS1R
ORAI1
NEK9
NLRP3
SDR9C7
CYP4F22
PROKR2
DNAJC21
MPLKIP
CARMIL2
TMPRSS6
CERS3
CCDC141
SUMF1
PNPLA1 22246504
FLG-AS1
NIPAL4
FEZF1
GTF2H5
LIPN
SNHG31
ICHTHYOSIS, LAMELLAR, 3 C1858142 CYP4F22
Ichthyosis, X-Linked C0079588 STS 10583107, 9252398, 10692123, 14641695, 10844566, 10679952, 1539590, 9623797