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01 Pigmentation Disorders [NCBI]


Gene


Gene Link Information
Gain
01
DUH [NCBI] 0.00132992
HMI [NCBI] 0.000973452
PDR [NCBI] 0.000352784
ODPF [NCBI] 0.000352784
ADAR [NCBI] 0.000305168
PRKAR1A [NCBI] 0.000187175
KTWS [NCBI] 0.000186344
TERC [NCBI] 0.000145226
MITF [NCBI] 9.49781e-05
MYH8 [NCBI] 5.15264e-05
KRT5 [NCBI] 4.03258e-05
OCA2 [NCBI] 2.41511e-05
PDE11A [NCBI] 2.19033e-05
NF1 [NCBI] 2.07925e-05
PTEN [NCBI] 1.93045e-05
MYO5A [NCBI] 1.91579e-05
DCT [NCBI] 1.87626e-05
RAB27A [NCBI] 1.60861e-05
TYRP1 [NCBI] 1.26006e-05
MCOLN2 [NCBI] 1.19612e-05
PAX3 [NCBI] 1.07601e-05
MCOLN3 [NCBI] 1.00656e-05
RAB38 [NCBI] 1.00656e-05
MSH6 [NCBI] 9.54181e-06
PAH [NCBI] 9.22789e-06
MLPH [NCBI] 9.18879e-06
OSTM1 [NCBI] 9.18879e-06
DSC3 [NCBI] 9.0568e-06
OFD1 [NCBI] 8.71281e-06
PAX1 [NCBI] 8.10709e-06
FERMT1 [NCBI] 8.03576e-06
BGN [NCBI] 7.77699e-06
CENPE [NCBI] 7.661e-06
CENPC1 [NCBI] 7.5006e-06
LOXL1 [NCBI] 7.35403e-06
CENPB [NCBI] 6.57861e-06
SMO [NCBI] 6.57861e-06
SOX10 [NCBI] 6.11524e-06
BLM [NCBI] 6.00632e-06
STAR [NCBI] 5.84554e-06
GLI1 [NCBI] 5.84554e-06
MC1R [NCBI] 5.80764e-06
ATP2A2 [NCBI] 5.75236e-06
TYR [NCBI] 5.35145e-06
SHOX [NCBI] 5.26807e-06
MAOA [NCBI] 5.24118e-06
TSC2 [NCBI] 5.04049e-06
KRT14 [NCBI] 4.94861e-06
PMS2 [NCBI] 4.76891e-06
PTPN6 [NCBI] 4.749e-06
GRM5 [NCBI] 4.45143e-06
STK11 [NCBI] 4.35545e-06
SHH [NCBI] 3.63099e-06
TP63 [NCBI] 3.20713e-06
PRL [NCBI] 3.00731e-06
FMR1 [NCBI] 2.20973e-06
G6PD [NCBI] 2.10363e-06
APC [NCBI] 1.93972e-06
TRH [NCBI] 1.86424e-06
HRAS [NCBI] 1.699e-06
HFE [NCBI] 1.55807e-06
CD68 [NCBI] 1.41156e-06
PCNA [NCBI] 6.02403e-07




OMIM


OMIM Link Information
gain
01
terminal osseous dysplasia and pigmentary defects [NCBI] 0.00330374
HMI [NCBI] 0.00281492
IP [NCBI] 0.00269055
dyschromatosis universalis hereditaria [NCBI] 0.00247289
oculocerebral syndrome with hypopigmentation [NCBI] 0.00243507
dyschromatosis symmetrica hereditaria 1 [NCBI] 0.00228126
glaucoma-related pigment dispersion syndrome [NCBI] 0.00189863
SPG23 [NCBI] 0.00172453
hyperpigmentation of eyelids [NCBI] 0.00164535
hyperpigmentation, familial progressive [NCBI] 0.00134595
pigmented purpuric eruption [NCBI] 0.00134595
DKC [NCBI] 0.00121121
microcephaly with chorioretinopathy, autosomal recessive [NCBI] 0.00111876
red skin pigment anomaly of new guinea [NCBI] 0.000821081
tongue, pigmented fungiform papillae of [NCBI] 0.000821081
graying of hair, precocious [NCBI] 0.000821081
EBS-MP [NCBI] 0.000804332
CNC1 [NCBI] 0.000787037
proteus syndrome [NCBI] 0.000754388
RA [NCBI] 0.00073235
WS1 [NCBI] 0.000546235
PDR [NCBI] 0.000522538
adrenal unresponsiveness to acth [NCBI] 0.000522538
dilution, pigmentary [NCBI] 0.000522538
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [NCBI] 0.000522538
DDD [NCBI] 0.000501001
johnson neuroectodermal syndrome [NCBI] 0.000469955
rosselli-gulienetti syndrome [NCBI] 0.000469955
SLE [NCBI] 0.000434824
CNC2 [NCBI] 0.000431071
PBT [NCBI] 0.000405121
MAS [NCBI] 0.00036479
sneddon syndrome [NCBI] 0.000353076
GCCD1 [NCBI] 0.000326623
cafe-au-lait spots, multiple [NCBI] 0.000326074
dermatitis, atopic [NCBI] 0.000317551
PJS [NCBI] 0.000313695
ehlers-danlos syndrome, type vib [NCBI] 0.000302645
ADFN [NCBI] 0.000302645
storage pool platelet disease [NCBI] 0.000302645
BRRS [NCBI] 0.000294652
HLP [NCBI] 0.000289175
oculocerebral hypopigmentation syndrome of preus [NCBI] 0.000274854
OSCS [NCBI] 0.000265637
ADAR [NCBI] 0.000258038
MITF [NCBI] 0.000213598
watson syndrome [NCBI] 0.000207607
FDH [NCBI] 0.000206141
NF1 [NCBI] 0.000196238
amyloidosis, primary cutaneous [NCBI] 0.000195383
elejalde disease [NCBI] 0.000189343
ermine phenotype [NCBI] 0.000183185
carney complex variant [NCBI] 0.000183185
GS1 [NCBI] 0.000176227
AIC [NCBI] 0.000170538
WS2A [NCBI] 0.000157561
albinism, ocular, with sensorineural deafness [NCBI] 0.000152287
waardenburg-shah syndrome [NCBI] 0.000144236
dyskeratosis congenita, autosomal recessive [NCBI] 0.000138353
PAX3 [NCBI] 0.000136589
tietz syndrome [NCBI] 0.000128806
DPR [NCBI] 0.000121503
SOX10 [NCBI] 0.000121039
KRT5 [NCBI] 0.000116378
naegeli syndrome [NCBI] 0.000115581
MCOPS7 [NCBI] 0.000113592
CDPX2 [NCBI] 0.000108002
PTEN [NCBI] 0.000104851
MYH8 [NCBI] 0.000103351
dyskeratosis congenita, autosomal dominant [NCBI] 0.000102522
XPV [NCBI] 9.915e-05
sturge-weber syndrome [NCBI] 9.915e-05
GS2 [NCBI] 9.61074e-05
macules, hereditary congenital hypopigmented and hyperpigmented [NCBI] 9.15665e-05
tremor of intention, ataxia, and lipofuscinosis [NCBI] 9.15665e-05
gastrocutaneous syndrome [NCBI] 9.15665e-05
thumb deformity and alopecia [NCBI] 9.15665e-05
pseudoatrophoderma colli [NCBI] 9.15665e-05
ataxia-telangiectasia with generalized skin pigmentation and early death [NCBI] 9.15665e-05
hyperpigmentation of fuldauer and kuijpers [NCBI] 9.15665e-05
nasal hyperpigmentation, familial transverse [NCBI] 9.15665e-05
osteopathia striata with pigmentary dermopathy including white forelock [NCBI] 9.15665e-05
hemangiomas of small intestine [NCBI] 9.15665e-05
anonychia with flexural pigmentation [NCBI] 9.15665e-05
russell-silver syndrome, x-linked [NCBI] 9.15665e-05
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 9.07925e-05
RAB27A [NCBI] 8.43038e-05
kabuki syndrome [NCBI] 8.29054e-05
farber lipogranulomatosis [NCBI] 8.14701e-05
PRKAR1A [NCBI] 7.67971e-05
TYRP1 [NCBI] 7.67971e-05
KRT14 [NCBI] 7.13855e-05
MCOLN2 [NCBI] 7.05996e-05
IDH1 [NCBI] 7.05996e-05
oca2 gene [NCBI] 6.91556e-05
hyperkeratosis-hyperpigmentation syndrome [NCBI] 6.91509e-05
coxoauricular syndrome [NCBI] 6.91509e-05
piebald trait with neurologic defects [NCBI] 6.91509e-05
patterson pseudoleprechaunism syndrome [NCBI] 6.91509e-05
poikiloderma, hereditary sclerosing [NCBI] 6.91509e-05
MCOPCT3 [NCBI] 6.91509e-05
leopard syndrome 1 [NCBI] 6.46223e-05
heterochromia iridis [NCBI] 6.07258e-05
abcd syndrome [NCBI] 6.07258e-05
yemenite deaf-blind hypopigmentation syndrome [NCBI] 6.07258e-05
muscular dystrophy, hemizygous lethal type [NCBI] 6.07258e-05
tuberous sclerosis 4 [NCBI] 6.07258e-05
nijmegen breakage syndrome [NCBI] 5.99078e-05
MCOLN3 [NCBI] 5.6827e-05
RAB38 [NCBI] 5.6827e-05
grouped pigmentation of the macula [NCBI] 5.52746e-05
polyposis, skin pigmentation, alopecia, and fingernail changes [NCBI] 5.52746e-05
CD [NCBI] 5.51594e-05
CMTC [NCBI] 5.23277e-05
UVS [NCBI] 5.12358e-05
scalp-ear-nipple syndrome [NCBI] 5.12358e-05
yellow nail syndrome [NCBI] 5.12358e-05
klippel-trenaunay-weber syndrome [NCBI] 4.86484e-05
MLPH [NCBI] 4.8264e-05
RABGGTA [NCBI] 4.8264e-05
PDE11A [NCBI] 4.8264e-05
BJS [NCBI] 4.80288e-05
sotos syndrome [NCBI] 4.63904e-05
OPTB5 [NCBI] 4.53715e-05
PPCRA [NCBI] 4.53715e-05
OSTM1 [NCBI] 4.3767e-05
HPS [NCBI] 4.37471e-05
PPNAD1 [NCBI] 4.31049e-05
HPS2 [NCBI] 4.11304e-05
XPB [NCBI] 4.11304e-05
LSA [NCBI] 4.02515e-05
PAX1 [NCBI] 3.94561e-05
coloboma, ocular [NCBI] 3.93826e-05
trismus-pseudocamptodactyly syndrome [NCBI] 3.93826e-05
MYO5A [NCBI] 3.83574e-05
sea-blue histiocyte disease [NCBI] 3.78159e-05
de sanctis-cacchione syndrome [NCBI] 3.78159e-05
megalencephaly-cutis marmorata telangiectatica congenita [NCBI] 3.78159e-05
macular dystrophy, vitelliform, adult-onset [NCBI] 3.78159e-05
porphyria variegata [NCBI] 3.74734e-05
WS3 [NCBI] 3.63973e-05
oculocerebrocutaneous syndrome [NCBI] 3.63973e-05
kindler syndrome [NCBI] 3.63973e-05
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities [NCBI] 3.63973e-05
wildervanck syndrome [NCBI] 3.63973e-05
MC2R [NCBI] 3.56519e-05
adult syndrome [NCBI] 3.5102e-05
AS [NCBI] 3.44666e-05
PDGFRA [NCBI] 3.41921e-05
ERCC3 [NCBI] 3.41921e-05
BGN [NCBI] 3.3537e-05
LMS [NCBI] 3.28092e-05
myxoma, intracardiac [NCBI] 3.28092e-05
XFS [NCBI] 3.08281e-05
DCT [NCBI] 3.07978e-05
thrombocytopenic purpura, autoimmune [NCBI] 3.00405e-05
cirrhosis, familial [NCBI] 2.99311e-05
papillorenal syndrome [NCBI] 2.99311e-05
PMS2 [NCBI] 2.98886e-05
immunoosseous dysplasia, schimke type [NCBI] 2.90871e-05
SMMCI [NCBI] 2.90871e-05
CDPX1 [NCBI] 2.90871e-05
MSH6 [NCBI] 2.79343e-05
EDNRB [NCBI] 2.72526e-05
lymphedema-distichiasis syndrome [NCBI] 2.68218e-05
MNS [NCBI] 2.61419e-05
CJD [NCBI] 2.5214e-05
PRPH2 [NCBI] 2.5193e-05
KIT [NCBI] 2.49324e-05
niemann-pick disease, type b [NCBI] 2.48755e-05
ehlers-danlos syndrome, type vi [NCBI] 2.48755e-05
neural tube defects [NCBI] 2.37175e-05
OFD1 [NCBI] 2.31741e-05
MAOA [NCBI] 2.2465e-05
HSCR1 [NCBI] 2.16536e-05
mismatch repair cancer syndrome [NCBI] 2.1201e-05
PKS [NCBI] 2.07514e-05
megaloblastic anemia 1 [NCBI] 2.07514e-05
gm1-gangliosidosis, type i [NCBI] 2.07514e-05
porphyria cutanea tarda [NCBI] 2.03652e-05
mucopolysaccharidosis type vi [NCBI] 2.03173e-05
FPLD2 [NCBI] 2.03173e-05
tyrosinemia, type i [NCBI] 1.94741e-05
TYR [NCBI] 1.93339e-05
cardiofaciocutaneous syndrome [NCBI] 1.7641e-05
STAR [NCBI] 1.75745e-05
GNAS [NCBI] 1.75745e-05
PWS [NCBI] 1.749e-05
ichthyosis, x-linked [NCBI] 1.73498e-05
OCA1A [NCBI] 1.69738e-05
XPA [NCBI] 1.63426e-05
mucopolysaccharidosis type ii [NCBI] 1.52911e-05
INSR [NCBI] 1.52045e-05
homocystinuria [NCBI] 1.50342e-05
TS [NCBI] 1.48981e-05
CSA [NCBI] 1.41197e-05
ED1 [NCBI] 1.3871e-05
FGFR2 [NCBI] 1.30271e-05
CHS [NCBI] 1.28003e-05
ornithine transcarbamylase deficiency, hyperammonemia due to [NCBI] 1.24907e-05
apc gene [NCBI] 1.20403e-05
hemophilia a [NCBI] 1.13229e-05
hurler syndrome [NCBI] 1.12762e-05
SRS [NCBI] 1.04684e-05
CHH [NCBI] 1.01983e-05
BLM [NCBI] 9.54449e-06
CD [NCBI] 8.30124e-06
MEN2A [NCBI] 7.71223e-06
FA [NCBI] 5.30987e-06
CDLS1 [NCBI] 4.8571e-06
PCNA [NCBI] 4.04635e-06
CEACAM5 [NCBI] 3.26655e-06
APC [NCBI] 2.71079e-06
ALD [NCBI] 1.21661e-06
polycystic kidneys [NCBI] 8.35187e-07
DFSP [NCBI] 2.69382e-07
G6PD [NCBI] 1.70225e-07
PRL [NCBI] 1.34192e-07
MFS [NCBI] 1.08428e-07
GIST [NCBI] 1.00163e-07




Database Center for Life Science