|
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
|
|