|
Skin Diseases, Genetic
|
|
|
|
437 genes has been reported with Skin Diseases, Genetic
|
[Click  to re-sort the table]
|
|
|
|
Meta-analysis Publication
|
FLG
|
120
|
6
|
| HFE
|
24
|
0
|
| IL4
|
19
|
2
|
| IL10
|
19
|
1
|
| ABCC6
|
16
|
0
|
| OCA2
|
15
|
0
|
| ERCC2
|
13
|
0
|
| TNF
|
13
|
0
|
| IL13
|
12
|
1
|
| NLRP3
|
12
|
0
|
| IL4R
|
11
|
0
|
| TYR
|
11
|
0
|
| SLC45A2
|
10
|
0
|
| ERCC5
|
9
|
1
|
| IL18
|
9
|
0
|
| TLR2
|
9
|
1
|
| GSTM1
|
9
|
0
|
| XPC
|
9
|
1
|
| IL1B
|
8
|
0
|
| SPINK5
|
8
|
0
|
| HPS1
|
7
|
0
|
| TYRP1
|
7
|
0
|
| MEFV
|
7
|
0
|
| TNFRSF1A
|
7
|
1
|
| GSTP1
|
7
|
0
|
| COL7A1
|
6
|
0
|
| TLR4
|
6
|
1
|
| NOD2
|
6
|
0
|
| GSTT1
|
6
|
0
|
| ERCC4
|
6
|
0
|
| STAT6
|
6
|
0
|
| CD14
|
5
|
0
|
| DEFB1
|
5
|
0
|
| IL6
|
5
|
0
|
| MTHFR
|
5
|
0
|
| CYP1A2
|
5
|
0
|
| DKC1
|
5
|
0
|
| XPA
|
5
|
0
|
| XRCC1
|
5
|
0
|
| IGHE
|
5
|
0
|
| FCER1A
|
5
|
0
|
| SOS1
|
4
|
0
|
| HMBS
|
4
|
0
|
| HRAS
|
4
|
0
|
| TSLP
|
4
|
0
|
| OVOL1
|
4
|
3
|
| PTPN11
|
4
|
0
|
| IL1A
|
4
|
0
|
| HRNR
|
4
|
1
|
| ENPP1
|
4
|
0
|
| TMEM232
|
4
|
1
|
| HLA-DRB1
|
4
|
0
|
| IFNG
|
4
|
0
|
| EDA
|
4
|
1
|
| KIF3A
|
4
|
3
|
| IL5
|
4
|
0
|
| IL12RB1
|
4
|
0
|
| TERT
|
4
|
0
|
| IL1RN
|
4
|
0
|
| MVK
|
4
|
0
|
| ACTL9
|
3
|
2
|
| STAT3
|
3
|
0
|
| MC1R
|
3
|
0
|
| CCL5
|
3
|
1
|
| ERCC3
|
3
|
0
|
| IFNGR1
|
3
|
0
|
| HPS4
|
3
|
0
|
| SLC25A46
|
3
|
1
|
| HLA-A
|
3
|
0
|
| BRAF
|
3
|
0
|
| IL31
|
3
|
0
|
| IL9
|
3
|
0
|
| TGM1
|
3
|
0
|
| TNFRSF6B
|
3
|
1
|
| TERC
|
3
|
0
|
| ATP2A2
|
3
|
0
|
| MAP2K1
|
3
|
0
|
| C11orf30
|
3
|
2
|
| EDAR
|
3
|
1
|
| BDNF
|
3
|
0
|
| SLC17A9
|
3
|
0
|
| TGFB1
|
3
|
0
|
| KLK7
|
3
|
0
|
| WNT10A
|
3
|
0
|
| VEGFA
|
3
|
0
|
| KRAS
|
3
|
0
|
| HLA-B
|
3
|
0
|
| TINF2
|
3
|
0
|
| FECH
|
3
|
0
|
| UROD
|
3
|
0
|
| HPS3
|
3
|
0
|
| IL12B
|
3
|
0
|
| CARD4
|
2
|
0
|
| IL1R1
|
2
|
0
|
| IL8
|
2
|
0
|
| CMA1
|
2
|
0
|
| ZGPAT
|
2
|
1
|
| TFR2
|
2
|
0
|
| MMP1
|
2
|
0
|
| HAMP
|
2
|
0
|
| RIT1
|
2
|
0
|
| NLRP1
|
2
|
0
|
| FLG2
|
2
|
0
|
| LTA
|
2
|
0
|
| STS
|
2
|
0
|
| COL3A1
|
2
|
0
|
| TBXA2R
|
2
|
0
|
| TF
|
2
|
0
|
| CARD11
|
2
|
1
|
| NLRP12
|
2
|
1
|
| TLR9
|
2
|
0
|
| CARD15
|
2
|
0
|
| MSH2
|
2
|
0
|
| OA1
|
2
|
0
|
| IL12A
|
2
|
0
|
| LRRC32
|
2
|
1
|
| ATP2C1
|
2
|
0
|
| SLC24A5
|
2
|
0
|
| CCR4
|
2
|
0
|
| NAT2
|
2
|
0
|
| EDARADD
|
2
|
1
|
| DDB1
|
2
|
0
|
| NPSR1
|
2
|
0
|
| CCL11
|
2
|
0
|
| CCL17
|
2
|
0
|
| XRCC3
|
2
|
0
|
| LTC4S
|
2
|
0
|
| RAF1
|
2
|
0
|
| IL9R
|
2
|
0
|
| IL5RA
|
2
|
0
|
| CYP1A1
|
2
|
0
|
| RAD50
|
2
|
0
|
| NOD1
|
2
|
0
|
| FDPS
|
2
|
0
|
| MS4A2
|
2
|
0
|
| CYP24A1
|
2
|
1
|
| TP63
|
2
|
0
|
| KRT5
|
2
|
0
|
| KRT14
|
2
|
0
|
| GJB2
|
2
|
0
|
| CSF2
|
2
|
0
|
| TP53
|
2
|
1
|
| MVD
|
2
|
0
|
| NOTCH1
|
2
|
0
|
| EPO
|
2
|
0
|
| ERCC1
|
2
|
0
|
| COL6A5
|
2
|
0
|
| LOR
|
2
|
0
|
| ADAM33
|
2
|
0
|
| VDR
|
2
|
0
|
| POLH
|
2
|
1
|
| PMVK
|
2
|
0
|
| GPR143
|
2
|
0
|
| HRH4
|
2
|
0
|
| SOD2
|
1
|
0
|
| KIR3DL2
|
1
|
0
|
| MID1
|
1
|
0
|
| ACP1
|
1
|
0
|
| TOLLIP
|
1
|
0
|
| KIR2DP1
|
1
|
0
|
| PRF1
|
1
|
0
|
| COL10A1
|
1
|
0
|
| CRB1
|
1
|
0
|
| OR7E66P
|
1
|
0
|
| GGCX
|
1
|
0
|
| ANXA6
|
1
|
1
|
| HLA-C
|
1
|
1
|
| HES1
|
1
|
0
|
| IKBKAP
|
1
|
0
|
| AP3B1
|
1
|
0
|
| CLDN1
|
1
|
0
|
| TIMD4
|
1
|
0
|
| TGM5
|
1
|
0
|
| RECQL4
|
1
|
0
|
| FADS2
|
1
|
0
|
| UGT1A9
|
1
|
0
|
| FERMT1
|
1
|
0
|
| DOCK6
|
1
|
0
|
| RNASE2
|
1
|
0
|
| RNASE3
|
1
|
0
|
| S100A4
|
1
|
0
|
| CRLF2
|
1
|
0
|
| SILV
|
1
|
0
|
| SPP1
|
1
|
0
|
| ST2
|
1
|
0
|
| HPS6
|
1
|
0
|
| IL2
|
1
|
0
|
| GLB1
|
1
|
1
|
| GNAI3
|
1
|
0
|
| LCE3C
|
1
|
0
|
| CDSN
|
1
|
0
|
| COX8A
|
1
|
0
|
| CCDC80
|
1
|
1
|
| DEFA4
|
1
|
0
|
| DUSP1
|
1
|
0
|
| NSDHL
|
1
|
0
|
| RTEL1
|
1
|
0
|
| UBASH3A
|
1
|
0
|
| IL13RA1
|
1
|
0
|
| IL16
|
1
|
0
|
| IRF2
|
1
|
0
|
| KIR2DL1
|
1
|
0
|
| KIR2DS5
|
1
|
0
|
| WNT10B
|
1
|
0
|
| TAP2
|
1
|
0
|
| GRHL2
|
1
|
0
|
| NR4A3
|
1
|
1
|
| SART3
|
1
|
0
|
| TH1L
|
1
|
0
|
| RETN
|
1
|
0
|
| ARHGAP31
|
1
|
0
|
| ALOXE3
|
1
|
0
|
| S100A2
|
1
|
0
|
| S100A10
|
1
|
0
|
| CCL2
|
1
|
0
|
| A2ML1
|
1
|
0
|
| PTPRVP
|
1
|
0
|
| CTLA4
|
1
|
0
|
| CYP27A1
|
1
|
0
|
| FCGR1B
|
1
|
0
|
| OR10A3
|
1
|
1
|
| HPS5
|
1
|
0
|
| RPTN
|
1
|
0
|
| RBM45
|
1
|
0
|
| C3orf64
|
1
|
0
|
| GPX1
|
1
|
0
|
| SLC40A1
|
1
|
0
|
| XIAP
|
1
|
0
|
| SLC10A5
|
1
|
0
|
| APOE
|
1
|
0
|
| IL18RAP
|
1
|
1
|
| TIMELESS
|
1
|
0
|
| IL17A
|
1
|
0
|
| IL32
|
1
|
0
|
| TFRC
|
1
|
0
|
| C2
|
1
|
0
|
| TPMT
|
1
|
0
|
| ERBB3
|
1
|
0
|
| CHI3L1
|
1
|
0
|
| PGLYRP3
|
1
|
0
|
| CTNNB1
|
1
|
0
|
| IKZF3
|
1
|
1
|
| PTPN22
|
1
|
0
|
| MCC
|
1
|
0
|
| MYD88
|
1
|
0
|
| PFDN4
|
1
|
1
|
| PLG
|
1
|
0
|
| SLC6A15
|
1
|
1
|
| CFB
|
1
|
0
|
| SKIV2L
|
1
|
0
|
| SPRR1A
|
1
|
0
|
| ALOX12B
|
1
|
0
|
| LCE5A
|
1
|
0
|
| D4S234E
|
1
|
1
|
| CYSLTR1
|
1
|
0
|
| ADSS
|
1
|
0
|
| LAMA3
|
1
|
0
|
| SMAD3
|
1
|
0
|
| MPG
|
1
|
0
|
| NRAS
|
1
|
0
|
| PRKAG2
|
1
|
0
|
| BCL2A1
|
1
|
0
|
| EDA2R
|
1
|
1
|
| SLC6A4
|
1
|
0
|
| VEGFC
|
1
|
0
|
| CASP1
|
1
|
0
|
| ORAI1
|
1
|
0
|
| DKFZp761E198
|
1
|
1
|
| S100A3
|
1
|
0
|
| S100A8
|
1
|
0
|
| CCL22
|
1
|
0
|
| CIITA
|
1
|
0
|
| NF1
|
1
|
0
|
| KIR2DL5B
|
1
|
0
|
| S100A14
|
1
|
0
|
| NLRC4
|
1
|
0
|
| TLR1
|
1
|
0
|
| CYBRD1
|
1
|
0
|
| SHOC2
|
1
|
0
|
| TMEM79
|
1
|
1
|
| HAVCR2
|
1
|
0
|
| RUNX3
|
1
|
0
|
| FLT4
|
1
|
0
|
| GJB3
|
1
|
0
|
| ACE
|
1
|
0
|
| RAB31
|
1
|
0
|
| CRP
|
1
|
0
|
| Flg
|
1
|
0
|
| PYHIN1
|
1
|
1
|
| KIR2DL4
|
1
|
0
|
| KIR2DS1
|
1
|
0
|
| KIR2DS4
|
1
|
0
|
| LAMP2
|
1
|
0
|
| LIG4
|
1
|
0
|
| HLA-DQA1
|
1
|
0
|
| LOC339400
|
1
|
0
|
| IFNAR1
|
1
|
0
|
| APP
|
1
|
0
|
| LILRA6
|
1
|
0
|
| RDBP
|
1
|
0
|
| C16orf57
|
1
|
0
|
| CAT
|
1
|
0
|
| C3
|
1
|
0
|
| TAP1
|
1
|
0
|
| TGM3
|
1
|
0
|
| PLCG2
|
1
|
0
|
| PMS2
|
1
|
0
|
| KIR3DP1
|
1
|
0
|
| ANKH
|
1
|
0
|
| OR10R3P
|
1
|
0
|
| CRNN
|
1
|
0
|
| CD207
|
1
|
0
|
| DEFA6
|
1
|
0
|
| ALPL
|
1
|
0
|
| NLRP10
|
1
|
1
|
| LCE3A
|
1
|
0
|
| IL7R
|
1
|
0
|
| KIR2DS3
|
1
|
0
|
| COL8A1
|
1
|
0
|
| TMTC2
|
1
|
1
|
| GJB6
|
1
|
0
|
| LILRA3
|
1
|
0
|
| PRDM5
|
1
|
0
|
| ANTXR2
|
1
|
0
|
| COL1A1
|
1
|
0
|
| PSMB8
|
1
|
0
|
| PSMB9
|
1
|
0
|
| GRAMD1B
|
1
|
1
|
| RAB27A
|
1
|
0
|
| DLL4
|
1
|
0
|
| MAPK1
|
1
|
0
|
| SCGB1A1
|
1
|
0
|
| ZNF469
|
1
|
0
|
| HEY1
|
1
|
0
|
| MTBP
|
1
|
0
|
| CD209
|
1
|
0
|
| IL17F
|
1
|
0
|
| KIR3DL3
|
1
|
0
|
| COL9A1
|
1
|
0
|
| ADM
|
1
|
0
|
| RBPJ
|
1
|
0
|
| KIR2DL3
|
1
|
0
|
| KRT10
|
1
|
0
|
| HNMT
|
1
|
0
|
| AIRE
|
1
|
0
|
| IFI16
|
1
|
1
|
| CFH
|
1
|
0
|
| KDR
|
1
|
0
|
| IL6R
|
1
|
0
|
| CYP27B1
|
1
|
0
|
| AGA
|
1
|
0
|
| ALDH2
|
1
|
0
|
| TNIP1
|
1
|
1
|
| CTSC
|
1
|
0
|
| IRAK3
|
1
|
0
|
| ERCC8
|
1
|
0
|
| PCDH1
|
1
|
0
|
| NOP10
|
1
|
0
|
| MAP2K2
|
1
|
0
|
| S100A1
|
1
|
0
|
| S100A5
|
1
|
0
|
| OR6B2
|
1
|
0
|
| MBP
|
1
|
0
|
| TSPO
|
1
|
0
|
| PRKRA
|
1
|
1
|
| IL18R1
|
1
|
1
|
| HERC2
|
1
|
0
|
| IL1RL1
|
1
|
1
|
| ORMDL3
|
1
|
0
|
| SSH1
|
1
|
0
|
| ELOVL2
|
1
|
1
|
| TLR7
|
1
|
0
|
| CYSLTR2
|
1
|
0
|
| KIR2DL5A
|
1
|
0
|
| SELE
|
1
|
0
|
| SPRR1B
|
1
|
0
|
| VEGFB
|
1
|
0
|
| AHR
|
1
|
0
|
| FBN1
|
1
|
0
|
| FGFR1
|
1
|
0
|
| ALOX5
|
1
|
0
|
| GJA1
|
1
|
0
|
| MSH6
|
1
|
0
|
| IL13RA2
|
1
|
0
|
| JAG2
|
1
|
0
|
| KIR3DL1
|
1
|
0
|
| KIR3DS1
|
1
|
0
|
| MIF
|
1
|
0
|
| NFKB1
|
1
|
0
|
| FADS1
|
1
|
0
|
| KIR2DS2
|
1
|
0
|
| GJB4
|
1
|
0
|
| LAMC2
|
1
|
0
|
| MGP
|
1
|
0
|
| PRNP
|
1
|
0
|
| HLA-DQB1
|
1
|
0
|
| GATA3
|
1
|
0
|
| FCGR2A
|
1
|
0
|
| LEMD2
|
1
|
1
|
| TLR6
|
1
|
0
|
| CFTR
|
1
|
0
|
| TIRAP
|
1
|
0
|
| LELP1
|
1
|
0
|
| CYP2E1
|
1
|
0
|
| DEFA5
|
1
|
0
|
| RPS6KB1
|
1
|
0
|
| S100A6
|
1
|
0
|
| S100A9
|
1
|
0
|
| TG
|
1
|
0
|
| TRAF6
|
1
|
1
|
| XRCC2
|
1
|
0
|
| VKORC1
|
1
|
0
|
| STK19
|
1
|
0
|
| IL33
|
1
|
0
|
| IVL
|
1
|
0
|
| KIR2DL2
|
1
|
0
|
| CXCL16
|
1
|
0
|
| S100A7
|
1
|
0
|
| STIM1
|
1
|
0
|
| NGF
|
1
|
0
|
| PHF11
|
1
|
0
|
| MLH1
|
1
|
0
|
| TNXB
|
1
|
0
|
| NHP2
|
1
|
0
|
| SLC38A8
|
1
|
0
|
| HFE2
|
1
|
0
|
| IL23R
|
1
|
0
|
| HAVCR1
|
1
|
0
|
| GPR162
|
1
|
0
|
| GNAS
|
1
|
0
|
| ICAM1
|
1
|
0
|
| LCE3B
|
1
|
0
|
| EFHC1
|
1
|
1
|
| IL12RB2
|
1
|
0
|
| LAMB3
|
1
|
0
|
| LTBP1
|
1
|
0
|
| MBL2
|
1
|
0
|
|
Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number
in Phenopedia reflects only the indexed disease term, but the number in the HuGE Literature Finder
reflects all text searches of the disease term including the indexed term.
|
|
|
