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01 Skin Abnormalities [NCBI]


Gene


Gene Link Information
Gain
01
SCAR5 [NCBI] 0.000438875
BRAF [NCBI] 9.54231e-05
MAP2K2 [NCBI] 7.62945e-05
MAP2K1 [NCBI] 6.38976e-05
ZMPSTE24 [NCBI] 5.72795e-05
HCCS [NCBI] 5.50567e-05
KRAS [NCBI] 4.9007e-05
IRF6 [NCBI] 3.70494e-05
HRAS [NCBI] 3.08004e-05
ARHGAP6 [NCBI] 2.58137e-05
FGFR2 [NCBI] 2.08875e-05
LMNA [NCBI] 1.93732e-05
PTPN11 [NCBI] 1.79479e-05
FOXL2 [NCBI] 1.69115e-05
MRGPRX3 [NCBI] 1.57857e-05
EDA [NCBI] 1.4705e-05
NOG [NCBI] 1.3518e-05
DERL3 [NCBI] 1.34053e-05
CLDN6 [NCBI] 1.2507e-05
RPP30 [NCBI] 1.149e-05
PRSS8 [NCBI] 1.00332e-05
ORM1 [NCBI] 1.00332e-05
AK1 [NCBI] 9.87702e-06
LRIG1 [NCBI] 9.25769e-06
OFD1 [NCBI] 9.25769e-06
FOXN1 [NCBI] 8.80393e-06
MID1 [NCBI] 8.80393e-06
MFI2 [NCBI] 8.65151e-06
RECQL4 [NCBI] 7.76248e-06
ITK [NCBI] 7.67801e-06
HR [NCBI] 7.55867e-06
TNXB [NCBI] 7.34251e-06
ALDH3A2 [NCBI] 7.06245e-06
PLEC1 [NCBI] 6.65627e-06
COL7A1 [NCBI] 6.63384e-06
KRT8 [NCBI] 6.58987e-06
GJA1 [NCBI] 6.20362e-06
TGM1 [NCBI] 6.07092e-06
GBA [NCBI] 5.84725e-06
FBN1 [NCBI] 5.83335e-06
HDC [NCBI] 5.70034e-06
KRT14 [NCBI] 5.48473e-06
APAF1 [NCBI] 5.05197e-06
IBSP [NCBI] 5.01771e-06
AREG [NCBI] 4.91901e-06
CKAP4 [NCBI] 4.43225e-06
ICAM1 [NCBI] 4.32895e-06
SHH [NCBI] 4.1552e-06
POMC [NCBI] 4.08681e-06
ATR [NCBI] 4.049e-06
ERCC2 [NCBI] 3.88496e-06
TP63 [NCBI] 3.72486e-06
CDH1 [NCBI] 3.66512e-06
FGFR3 [NCBI] 3.52172e-06
GJB2 [NCBI] 3.0655e-06
CASP3 [NCBI] 7.97147e-07
PTGS2 [NCBI] 5.26167e-07
EGFR [NCBI] 5.16762e-07
EGF [NCBI] 4.43214e-07




OMIM


OMIM Link Information
gain
01
skin creases, multiple benign ring-shaped, of limbs [NCBI] 0.00535965
GO [NCBI] 0.00411831
facial ectodermal dysplasia [NCBI] 0.00202121
MCOPS7 [NCBI] 0.00192113
costello syndrome [NCBI] 0.00167053
aplasia cutis congenita of limbs, recessive [NCBI] 0.00165846
kabuki syndrome [NCBI] 0.00158899
cardiofaciocutaneous syndrome [NCBI] 0.00129267
cranioectodermal dysplasia [NCBI] 0.000955899
oculocerebrocutaneous syndrome [NCBI] 0.000692864
SCAR5 [NCBI] 0.000610413
fingerprints, absence of [NCBI] 0.000610413
NLS [NCBI] 0.000568872
mucoepithelial dysplasia, hereditary [NCBI] 0.000528953
ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease [NCBI] 0.000528953
acromial dimples [NCBI] 0.000476336
focal facial dermal dysplasia [NCBI] 0.000476336
rosselli-gulienetti syndrome [NCBI] 0.000476336
tight skin contracture syndrome, lethal [NCBI] 0.000433235
AOS [NCBI] 0.000432925
cutis laxa, corneal clouding, and mental retardation [NCBI] 0.000406568
proteus syndrome [NCBI] 0.000393732
sclerotylosis [NCBI] 0.000381049
epidermolysis bullosa with pyloric atresia [NCBI] 0.000380606
WSS [NCBI] 0.000377699
popliteal pterygium syndrome, lethal type [NCBI] 0.000359319
gapo syndrome [NCBI] 0.000359319
aplasia cutis congenita with epibulbar dermoids [NCBI] 0.000345644
epidermolysis bullosa with congenital localized absence of skin and deformity of nails [NCBI] 0.000330091
geleophysic dysplasia [NCBI] 0.000323725
megalencephaly-cutis marmorata telangiectatica congenita [NCBI] 0.00029082
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging [NCBI] 0.000271674
cutis gyrata syndrome of beare and stevenson [NCBI] 0.000250984
ACC [NCBI] 0.000242538
PPS [NCBI] 0.000229939
HCCS [NCBI] 0.000220278
JBTS1 [NCBI] 0.000176126
barber-say syndrome [NCBI] 0.000149093
cerebellotrigeminal dermal dysplasia [NCBI] 0.000141763
cleft, median, of upper lip with polyps of facial skin and nasal mucosa [NCBI] 0.000141763
EEC1 [NCBI] 0.000141125
NS1 [NCBI] 0.000139396
FDH [NCBI] 0.000128067
CMTC [NCBI] 0.000126991
pena-shokeir syndrome, type i [NCBI] 0.000123898
ST14 [NCBI] 0.000119906
CHUK [NCBI] 0.000114151
APAF1 [NCBI] 0.000111801
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 0.00011084
cutis laxa, autosomal recessive, type ii [NCBI] 0.000106253
ectodermal dysplasia with natal teeth, turnpenny type [NCBI] 0.000101728
dermatoleukodystrophy [NCBI] 0.000101728
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin [NCBI] 0.000101728
incisors, lower central, absence of [NCBI] 0.000101728
acrocephalopolysyndactyly type iii [NCBI] 0.000101728
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies [NCBI] 0.000101728
brachymetapody-anodontia-hypotrichosis-albinoidism [NCBI] 0.000101728
IRF6 [NCBI] 0.000100354
JBS [NCBI] 9.26231e-05
BRAF [NCBI] 8.32097e-05
hairy palms and soles [NCBI] 8.06454e-05
COL7A1 [NCBI] 8.03117e-05
dermoodontodysplasia [NCBI] 7.92853e-05
aplasia cutis congenita, high myopia, and cone-rod dysfunction [NCBI] 7.92853e-05
noonan syndrome 3 [NCBI] 7.92853e-05
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities [NCBI] 7.92853e-05
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis [NCBI] 7.92853e-05
CDPX2 [NCBI] 7.84851e-05
KRAS [NCBI] 7.41906e-05
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [NCBI] 7.08336e-05
ACP2 [NCBI] 6.68676e-05
MAP2K2 [NCBI] 6.68676e-05
ORAOV1 [NCBI] 6.68676e-05
LOCS [NCBI] 6.53557e-05
carbimazole sensitivity [NCBI] 6.53557e-05
ATCAY [NCBI] 6.53557e-05
BPES [NCBI] 6.53175e-05
VWS [NCBI] 6.21419e-05
CVG/MR [NCBI] 6.12902e-05
knuckle pads, leukonychia, and sensorineural deafness [NCBI] 6.12902e-05
NPS [NCBI] 5.88316e-05
FGFR2 [NCBI] 5.84283e-05
ORM1 [NCBI] 5.82942e-05
PPP1R13L [NCBI] 5.82942e-05
zunich neuroectodermal syndrome [NCBI] 5.80566e-05
HGPS [NCBI] 5.58668e-05
FST [NCBI] 5.57854e-05
ruvalcaba syndrome [NCBI] 5.53726e-05
NSDHL [NCBI] 5.37868e-05
ZMPSTE24 [NCBI] 5.21252e-05
JUP [NCBI] 5.21252e-05
MAP2K1 [NCBI] 5.07031e-05
SFN [NCBI] 4.94602e-05
RECQL4 [NCBI] 4.94602e-05
lenz-majewski hyperostotic dwarfism [NCBI] 4.93037e-05
growth-mental deficiency syndrome of myhre [NCBI] 4.93037e-05
FGF3 [NCBI] 4.83564e-05
noonan-like/multiple giant cell lesion syndrome [NCBI] 4.77103e-05
sturge-weber syndrome [NCBI] 4.77103e-05
CLPED1 [NCBI] 4.77103e-05
HFM [NCBI] 4.64314e-05
chromosome 18q deletion syndrome [NCBI] 4.62651e-05
disorganization, mouse, homolog of [NCBI] 4.49431e-05
EBP [NCBI] 4.35047e-05
cerebrocostomandibular syndrome [NCBI] 4.25969e-05
multiple pterygium syndrome, escobar variant [NCBI] 4.25969e-05
gaucher disease, type ii [NCBI] 4.25969e-05
tyrosine transaminase deficiency [NCBI] 4.23038e-05
DST [NCBI] 4.12337e-05
EDA [NCBI] 4.12337e-05
TGM1 [NCBI] 4.07395e-05
AK1 [NCBI] 4.02689e-05
PTPN11 [NCBI] 4.02689e-05
ACVRL1 [NCBI] 3.8979e-05
KFSD [NCBI] 3.87682e-05
IP [NCBI] 3.84185e-05
ICAM1 [NCBI] 3.82048e-05
ichthyosis congenita, harlequin fetus type [NCBI] 3.71647e-05
DDD [NCBI] 3.64229e-05
ORW2 [NCBI] 3.64229e-05
CEACAM1 [NCBI] 3.5895e-05
PIGA [NCBI] 3.56056e-05
ALDH3A2 [NCBI] 3.53245e-05
MADA [NCBI] 3.37783e-05
neural tube defects [NCBI] 3.31852e-05
HRAS [NCBI] 3.2465e-05
leopard syndrome 1 [NCBI] 3.10278e-05
fraser syndrome [NCBI] 3.05353e-05
PKS [NCBI] 3.00591e-05
EVC [NCBI] 2.74953e-05
LMNA [NCBI] 2.57654e-05
FBN1 [NCBI] 2.44334e-05
LI1 [NCBI] 2.34625e-05
CES [NCBI] 2.3175e-05
HDC [NCBI] 2.29606e-05
RTS [NCBI] 2.20843e-05
SLS [NCBI] 1.68176e-05
menkes disease [NCBI] 1.58352e-05
POMC [NCBI] 1.41802e-05
SHH [NCBI] 1.40702e-05
CDLS1 [NCBI] 1.19229e-05
EV [NCBI] 8.58014e-06
MUC1 [NCBI] 7.13584e-06
WBS [NCBI] 5.78542e-06
MFS [NCBI] 3.56692e-06
EGF [NCBI] 3.73336e-07
CEACAM5 [NCBI] 2.35254e-07
EGFR [NCBI] 1.98611e-09




Database Center for Life Science