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01 Bone Diseases, Developmental [NCBI]

Gene


 Gene Link Information
Gain		 01
FND [NCBI] 0.000587664
BDMF [NCBI] 0.000373825
ODPF [NCBI] 0.000373825
OSCS [NCBI] 0.000313087
RMRP [NCBI] 0.000223087
FOP [NCBI] 0.000145971
FGFR3 [NCBI] 0.000140394
SOX9 [NCBI] 0.000110388
SHOX [NCBI] 6.96168e-05
SLC26A2 [NCBI] 6.84097e-05
SOST [NCBI] 6.54216e-05
SMARCAL1 [NCBI] 5.70392e-05
LBR [NCBI] 3.84574e-05
DYM [NCBI] 3.40735e-05
MATN1 [NCBI] 3.194e-05
COL2A1 [NCBI] 2.82643e-05
ANKH [NCBI] 2.68521e-05
FLNA [NCBI] 2.5993e-05
NSD1 [NCBI] 2.42e-05
NPR2 [NCBI] 2.11263e-05
FGFR1 [NCBI] 2.1124e-05
EIF2AK3 [NCBI] 1.9732e-05
COMP [NCBI] 1.84959e-05
HS3ST5 [NCBI] 1.79786e-05
CTSK [NCBI] 1.68253e-05
FAM20C [NCBI] 1.26532e-05
TM7SF2 [NCBI] 1.26532e-05
NKX3-2 [NCBI] 1.1755e-05
IFT80 [NCBI] 1.1755e-05
CHST3 [NCBI] 1.1755e-05
FGFR2 [NCBI] 1.10212e-05
TBX4 [NCBI] 1.07381e-05
PTH [NCBI] 1.04139e-05
ACD [NCBI] 1.03926e-05
FAM123B [NCBI] 9.12584e-06
DLL3 [NCBI] 8.7284e-06
LEMD3 [NCBI] 8.7284e-06
OFD1 [NCBI] 8.50699e-06
TBCE [NCBI] 8.31101e-06
ALX4 [NCBI] 8.22086e-06
TRPV4 [NCBI] 7.9759e-06
COL9A3 [NCBI] 7.90148e-06
LRP6 [NCBI] 7.90148e-06
ROR2 [NCBI] 7.83018e-06
FGD1 [NCBI] 7.63261e-06
SOX3 [NCBI] 7.45561e-06
ZFP36 [NCBI] 7.40047e-06
PMM2 [NCBI] 7.14882e-06
ATF4 [NCBI] 6.84942e-06
SBDS [NCBI] 6.81066e-06
TYROBP [NCBI] 6.73571e-06
GLB1 [NCBI] 6.62915e-06
LRP5 [NCBI] 6.46526e-06
TLX1 [NCBI] 6.34471e-06
ADA [NCBI] 6.19165e-06
SREBF2 [NCBI] 6.12677e-06
NOTCH4 [NCBI] 6.10141e-06
LIFR [NCBI] 5.88891e-06
COL1A2 [NCBI] 5.5671e-06
GJA1 [NCBI] 5.4608e-06
COL11A2 [NCBI] 5.44372e-06
RUNX2 [NCBI] 5.03874e-06
PAX8 [NCBI] 4.9993e-06
NOG [NCBI] 4.8268e-06
CASR [NCBI] 4.56772e-06
IAPP [NCBI] 4.23498e-06
GNAS [NCBI] 4.21078e-06
LMNA [NCBI] 3.84717e-06
NOTCH1 [NCBI] 3.71872e-06
CKAP4 [NCBI] 3.70702e-06
ARID4A [NCBI] 3.67813e-06
CD99 [NCBI] 3.59999e-06
TGFBR1 [NCBI] 3.22904e-06
TP63 [NCBI] 3.01404e-06
MMP9 [NCBI] 2.61376e-06
FMR1 [NCBI] 2.02836e-06
TGFB1 [NCBI] 7.67841e-07
EPO [NCBI] 6.44782e-07
PCNA [NCBI] 4.78955e-07
CFTR [NCBI] 3.50186e-07



OMIM


 OMIM Link Information
gain		 01
kyphomelic dysplasia [NCBI] 0.00354723
ATD1 [NCBI] 0.00240754
omodysplasia, generalized form [NCBI] 0.00236815
spondyloepimetaphyseal dysplasia, sponastrime type [NCBI] 0.00236815
hypertelorism with esophageal abnormality and hypospadias [NCBI] 0.00234463
spondylodysplasia with pure brachyolmia [NCBI] 0.00199523
pyle disease [NCBI] 0.00164386
diaphyseal medullary stenosis with malignant fibrous histiocytoma [NCBI] 0.00164386
spondyloepimetaphyseal dysplasia with multiple dislocations [NCBI] 0.00161808
spondyloenchondrodysplasia [NCBI] 0.00142142
OSCS [NCBI] 0.0013684
deafness, congenital, and onychodystrophy, recessive form [NCBI] 0.0013684
OSCS [NCBI] 0.00134819
epiphyseal dysplasia, microcephaly, and nystagmus [NCBI] 0.00134819
MRSD [NCBI] 0.00132899
osteodysplasia, familial, anderson type [NCBI] 0.00132899
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases [NCBI] 0.00125276
microcephalic osteodysplastic primordial dwarfism, type i [NCBI] 0.00123379
short rib-polydactyly syndrome, type iii [NCBI] 0.00100008
DBQD [NCBI] 0.000954795
omodysplasia [NCBI] 0.000897665
terminal osseous dysplasia and pigmentary defects [NCBI] 0.000897665
pierre robin sequence with pectus excavatum and rib and scapular anomalies [NCBI] 0.000737724
spondyloepiphyseal dysplasia tarda, toledo type [NCBI] 0.000737724
FMD [NCBI] 0.00071387
CMDR [NCBI] 0.000682036
CMDD [NCBI] 0.000678913
ulnar hypoplasia [NCBI] 0.000663918
pubic bone dysplasia [NCBI] 0.000663918
dyssegmental dysplasia, rolland-desbuquois type [NCBI] 0.000635469
campomelic dysplasia [NCBI] 0.000610979
acrodysostosis [NCBI] 0.000595524
SEMDJL [NCBI] 0.000529656
kenny-caffey syndrome, type 2 [NCBI] 0.000529656
thrombocytopenia-absent radius syndrome [NCBI] 0.000509525
acroosteolysis with osteoporosis and changes in skull and mandible [NCBI] 0.000453837
metaphyseal acroscyphodysplasia [NCBI] 0.000448271
PTLAH [NCBI] 0.000448271
acromicric dysplasia [NCBI] 0.000448271
trichoscyphodysplasia [NCBI] 0.000448271
SOX9 [NCBI] 0.000440938
spondylometaphyseal dysplasia, corner fracture type [NCBI] 0.000368317
OGD [NCBI] 0.000356302
SOST [NCBI] 0.000350464
lenz-majewski hyperostotic dwarfism [NCBI] 0.000344221
CLS [NCBI] 0.000340911
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia [NCBI] 0.000324433
brachydactyly-mental retardation syndrome [NCBI] 0.000317207
spondylometaphyseal dysplasia, kozlowski type [NCBI] 0.000317207
WZS [NCBI] 0.000316347
gracile bone dysplasia [NCBI] 0.000303141
pseudodiastrophic dysplasia [NCBI] 0.000287616
marshall-smith syndrome [NCBI] 0.000287616
spondylometaphyseal dysplasia, sedaghatian type [NCBI] 0.000279794
opsismodysplasia [NCBI] 0.000279794
hemifacial microsomia with radial defects [NCBI] 0.000279794
osteoarthropathy of fingers, familial [NCBI] 0.000279794
NLS [NCBI] 0.00027559
FGFR3 [NCBI] 0.000263499
MNS [NCBI] 0.00026212
diastrophic dysplasia [NCBI] 0.000251175
fibrochondrogenesis [NCBI] 0.000250451
acromelic frontonasal dysostosis [NCBI] 0.000250451
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies [NCBI] 0.00023722
metatropic dwarfism [NCBI] 0.000226438
hypoadrenocorticism, familial [NCBI] 0.000226438
OPD2 [NCBI] 0.000215334
hypertrichotic osteochondrodysplasia [NCBI] 0.000206216
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia [NCBI] 0.000206216
FAM20C [NCBI] 0.000204348
LWD [NCBI] 0.000200528
GO [NCBI] 0.000188826
BDE [NCBI] 0.000188121
kniest-like dysplasia with pursed lips and ectopia lentis [NCBI] 0.000182366
camptodactyly, tall stature, and hearing loss syndrome [NCBI] 0.000182366
ulna metaphyseal dysplasia syndrome [NCBI] 0.000182366
eiken skeletal dysplasia [NCBI] 0.000182366
camurati-engelmann disease [NCBI] 0.000175479
hydrops-ectopic calcification-moth-eaten skeletal dysplasia [NCBI] 0.000175008
ear, patella, short stature syndrome [NCBI] 0.000173636
tibia, hypoplasia of, with polydactyly [NCBI] 0.000173636
OSMED [NCBI] 0.000169606
AMDM [NCBI] 0.000169606
ACH [NCBI] 0.000167347
AOI [NCBI] 0.000164759
RNS [NCBI] 0.000160366
OFD4 [NCBI] 0.000160203
TD1 [NCBI] 0.000158438
OPD1 [NCBI] 0.000152646
kniest dysplasia [NCBI] 0.000152646
rhizomelic syndrome [NCBI] 0.00015147
COL2A1 [NCBI] 0.000146588
DMC [NCBI] 0.00014602
PTHR1 [NCBI] 0.00013827
short rib-polydactyly syndrome, type iv [NCBI] 0.000137404
TRPS1 [NCBI] 0.00013042
weaver syndrome [NCBI] 0.000128264
spondyloperipheral dysplasia [NCBI] 0.000127992
CDD [NCBI] 0.000127992
FLNA [NCBI] 0.000123368
SPS [NCBI] 0.00012069
pelvis-shoulder dysplasia [NCBI] 0.00012069
bowing of legs, anterior, with dwarfism [NCBI] 0.00012069
ruvalcaba syndrome [NCBI] 0.00011477
SCDO1 [NCBI] 0.000112407
short rib-polydactyly syndrome, type ii [NCBI] 0.000110519
frontonasal dysplasia [NCBI] 0.00010979
boomerang dysplasia [NCBI] 0.00010979
chondrodysplasia punctata, tibia-metacarpal type [NCBI] 0.00010979
HCH [NCBI] 0.000109527
EIF2AK3 [NCBI] 0.000109392
AOII [NCBI] 0.000105493
winchester syndrome [NCBI] 0.000105493
catel-manzke syndrome [NCBI] 0.000105493
schinzel-giedion midface-retraction syndrome [NCBI] 0.000103003
chondrodysplasia, grebe type [NCBI] 0.000101715
floating-harbor syndrome [NCBI] 0.000101715
SOST [NCBI] 0.000101294
ANKH [NCBI] 0.000101294
KCS [NCBI] 9.83449e-05
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus [NCBI] 9.83449e-05
FGFR1 [NCBI] 9.77365e-05
three m syndrome [NCBI] 9.2534e-05
thoracomelic dysplasia [NCBI] 9.1158e-05
brachydactyly, long-thumb type [NCBI] 9.1158e-05
microspherophakia-metaphyseal dysplasia [NCBI] 9.1158e-05
metatropic dysplasia, nonlethal dominant [NCBI] 9.1158e-05
osteosclerosis with ichthyosis and fractures [NCBI] 9.1158e-05
mesomelic dysplasia, savarirayan type [NCBI] 9.1158e-05
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia [NCBI] 9.1158e-05
mental retardation, microcephaly, epilepsy, and coarse face [NCBI] 9.1158e-05
osteosclerotic chondrodysplasia, lethal, with intracellular inclusions [NCBI] 9.1158e-05
prenatal bowing [NCBI] 9.1158e-05
hall-riggs mental retardation syndrome [NCBI] 9.1158e-05
craniodiaphyseal dysplasia, dominant [NCBI] 9.1158e-05
brachydactyly, mononen type [NCBI] 9.1158e-05
hirschsprung disease with polydactyly, renal agenesis, and deafness [NCBI] 9.1158e-05
metaphyseal chondrodysplasia with retinitis pigmentosa [NCBI] 9.1158e-05
ulnar hypoplasia with mental retardation [NCBI] 9.1158e-05
chondrodysplasia calcificans metaphysealis [NCBI] 9.1158e-05
hypertelorism and tetralogy of fallot [NCBI] 9.1158e-05
nasal bones, absence of [NCBI] 9.1158e-05
macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance [NCBI] 9.1158e-05
skeletal dysplasia and progressive central nervous system degeneration, lethal [NCBI] 9.1158e-05
spondyloepimetaphyseal dysplasia, genevieve type [NCBI] 9.1158e-05
thoracic dysostosis, isolated [NCBI] 9.1158e-05
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects [NCBI] 9.1158e-05
bowing of long bones, asymmetric and symmetric [NCBI] 9.1158e-05
brachymesomelia-renal syndrome [NCBI] 9.1158e-05
neutrophilia, hereditary [NCBI] 9.1158e-05
ATD2 [NCBI] 9.1158e-05
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [NCBI] 9.1158e-05
myelolymphatic insufficiency [NCBI] 9.1158e-05
congenital hemidysplasia with ichthyosiform erythroderma and limb defects [NCBI] 8.99918e-05
robinow syndrome, autosomal dominant [NCBI] 8.96449e-05
CTSK [NCBI] 8.86598e-05
LBR [NCBI] 8.75271e-05
dandy-walker-like malformation with atrioventricular septal defect [NCBI] 8.3684e-05
HOS [NCBI] 8.30948e-05
pycnodysostosis [NCBI] 8.15146e-05
IFT80 [NCBI] 7.54311e-05
BAPX1 [NCBI] 7.54311e-05
SLSN1 [NCBI] 7.344e-05
MADA [NCBI] 6.94682e-05
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia [NCBI] 6.87439e-05
subaortic stenosis--short stature syndrome [NCBI] 6.87439e-05
pelviscapular dysplasia [NCBI] 6.87439e-05
second metatarsal-metacarpal syndrome [NCBI] 6.87439e-05
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia [NCBI] 6.87439e-05
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia [NCBI] 6.87439e-05
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia [NCBI] 6.87439e-05
radial-renal syndrome [NCBI] 6.87439e-05
pelvic hypoplasia with lower-limb arthrogryposis [NCBI] 6.87439e-05
brachyrachia [NCBI] 6.87439e-05
micromelic dysplasia, congenital, with dislocation of radius [NCBI] 6.87439e-05
patterson pseudoleprechaunism syndrome [NCBI] 6.87439e-05
spondylometaphyseal dysplasia, east african type [NCBI] 6.87439e-05
hirsutism--skeletal dysplasia--mental retardation syndrome [NCBI] 6.87439e-05
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction [NCBI] 6.87439e-05
thoracopelvic dysostosis [NCBI] 6.87439e-05
epiphyseal dysplasia, multiple, with myopia and conductive deafness [NCBI] 6.87439e-05
hypothalamic hamartomas [NCBI] 6.87439e-05
stratton-parker syndrome [NCBI] 6.87439e-05
metaphyseal dysplasia without hypotrichosis [NCBI] 6.87439e-05
metaphyseal chondrodysplasia, pena type [NCBI] 6.87439e-05
SDS [NCBI] 6.49852e-05
ABS [NCBI] 6.48877e-05
TBX4 [NCBI] 6.16554e-05
spondylometaepiphyseal dysplasia, short limb-hand type [NCBI] 6.03203e-05
craniofacial dysostosis with diaphyseal hyperplasia [NCBI] 6.03203e-05
dysplasia epiphysealis hemimelica [NCBI] 6.03203e-05
acrofrontofacionasal dysostosis, severe [NCBI] 6.03203e-05
metaphyseal anadysplasia [NCBI] 6.03203e-05
brachydactyly, preaxial, with hallux varus and thumb abduction [NCBI] 6.03203e-05
ASPED [NCBI] 6.03203e-05
peripheral dysostosis [NCBI] 6.03203e-05
rapadilino syndrome [NCBI] 6.03203e-05
humeroradial synostosis [NCBI] 6.03203e-05
spondylocostal dysostosis with anal atresia and urogenital anomalies [NCBI] 6.03203e-05
ACFD [NCBI] 6.03203e-05
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes [NCBI] 6.03203e-05
DA2A [NCBI] 6.00209e-05
RBS [NCBI] 5.7454e-05
STL1 [NCBI] 5.66476e-05
exostoses, multiple, type i [NCBI] 5.58636e-05
GUSB [NCBI] 5.56599e-05
chiari malformation type i [NCBI] 5.54118e-05
DDSH [NCBI] 5.48705e-05
TLPD [NCBI] 5.48705e-05
lathosterolosis [NCBI] 5.48705e-05
humerospinal dysostosis [NCBI] 5.48705e-05
roifman syndrome [NCBI] 5.48705e-05
MADB [NCBI] 5.48705e-05
gurrieri syndrome [NCBI] 5.48705e-05
PHS [NCBI] 5.29311e-05
GCPS [NCBI] 5.22441e-05
polydactyly, preaxial iv [NCBI] 5.08332e-05
iris coloboma with ptosis, hypertelorism, and mental retardation [NCBI] 5.08332e-05
holzgreve syndrome [NCBI] 5.08332e-05
osteolysis, hereditary multicentric [NCBI] 5.08332e-05
GCS1 [NCBI] 5.08332e-05
aprosencephaly syndrome [NCBI] 5.08332e-05
LRP6 [NCBI] 5.05794e-05
NPR2 [NCBI] 5.05794e-05
SRS [NCBI] 4.99642e-05
FGFR2 [NCBI] 4.81783e-05
MONA [NCBI] 4.76277e-05
cleft larynx, posterior [NCBI] 4.76277e-05
cleft lip/palate with abnormal thumbs and microcephaly [NCBI] 4.76277e-05
weyers ulnar ray/oligodactyly syndrome [NCBI] 4.76277e-05
TREM2 [NCBI] 4.69232e-05
PAPSS2 [NCBI] 4.55032e-05
achondroplasia, so-called, and severe combined immunodeficiency [NCBI] 4.49718e-05
HSPG2 [NCBI] 4.42624e-05
GJA1 [NCBI] 4.39642e-05
RMRP [NCBI] 4.31606e-05
GRTH [NCBI] 4.27067e-05
GDD [NCBI] 4.27067e-05
COMP [NCBI] 4.1713e-05
metaphyseal chondrodysplasia, jansen type [NCBI] 4.07336e-05
martsolf syndrome [NCBI] 4.07336e-05
acromesomelic dysplasia, hunter-thompson type [NCBI] 4.07336e-05
serpentine fibula-polycystic kidney syndrome [NCBI] 4.07336e-05
DLL3 [NCBI] 4.04456e-05
NPS [NCBI] 3.95312e-05
BOCD [NCBI] 3.89873e-05
muenke syndrome [NCBI] 3.89873e-05
SLC26A2 [NCBI] 3.89795e-05
HHS [NCBI] 3.74221e-05
d-2-@hydroxyglutaric aciduria [NCBI] 3.74221e-05
THRA [NCBI] 3.71245e-05
hyperostosis corticalis generalisata [NCBI] 3.60049e-05
LRP5 [NCBI] 3.55663e-05
ZFP36 [NCBI] 3.50977e-05
LADD [NCBI] 3.47111e-05
GLI3 [NCBI] 3.42234e-05
morquio syndrome b [NCBI] 3.35215e-05
langer mesomelic dysplasia [NCBI] 3.35215e-05
ACG2 [NCBI] 3.35215e-05
GDF5 [NCBI] 3.30439e-05
BDC [NCBI] 3.24212e-05
cerebrocostomandibular syndrome [NCBI] 3.24212e-05
WGN1 [NCBI] 3.24212e-05
stuve-wiedemann syndrome [NCBI] 3.24212e-05
WHS [NCBI] 3.17288e-05
LRS1 [NCBI] 3.13982e-05
marshall syndrome [NCBI] 3.13982e-05
NCIE1 [NCBI] 3.13982e-05
paget disease, juvenile [NCBI] 3.13982e-05
cutis laxa, autosomal recessive, type ii [NCBI] 3.13982e-05
tight skin contracture syndrome, lethal [NCBI] 3.0443e-05
heterotopia, periventricular, x-linked dominant [NCBI] 3.0443e-05
EDM1 [NCBI] 2.95475e-05
spondyloepimetaphyseal dysplasia, strudwick type [NCBI] 2.95475e-05
hypophosphatasia, adult type [NCBI] 2.8705e-05
immunoosseous dysplasia, schimke type [NCBI] 2.8705e-05
MCDS [NCBI] 2.8705e-05
KFSD [NCBI] 2.8705e-05
PLOSL [NCBI] 2.791e-05
osteogenesis imperfecta, type iv [NCBI] 2.791e-05
THRB [NCBI] 2.73473e-05
HEPOD [NCBI] 2.71577e-05
robinow syndrome, autosomal recessive [NCBI] 2.64441e-05
mucopolysaccharidosis type iva [NCBI] 2.63774e-05
PPAC [NCBI] 2.57656e-05
HSS [NCBI] 2.51191e-05
BGS [NCBI] 2.45021e-05
SRY [NCBI] 2.40975e-05
PHA [NCBI] 2.39121e-05
PTHLH [NCBI] 2.36697e-05
IHH [NCBI] 2.35369e-05
COL1A2 [NCBI] 2.25084e-05
CFNS [NCBI] 2.17841e-05
AHC [NCBI] 2.08378e-05
pfeiffer syndrome [NCBI] 2.03898e-05
mucopolysaccharidosis type vii [NCBI] 2.03898e-05
gm1-gangliosidosis, type i [NCBI] 2.03898e-05
mucopolysaccharidosis type vi [NCBI] 1.99571e-05
INSR [NCBI] 1.97049e-05
ODDD [NCBI] 1.91342e-05
pena-shokeir syndrome, type i [NCBI] 1.90997e-05
mannosidosis, alpha b, lysosomal [NCBI] 1.87424e-05
CDPX2 [NCBI] 1.87424e-05
CASR [NCBI] 1.83813e-05
ehlers-danlos syndrome, type iv, autosomal dominant [NCBI] 1.79948e-05
HHC1 [NCBI] 1.69542e-05
PTH [NCBI] 1.69136e-05
SDC2 [NCBI] 1.646e-05
FDH [NCBI] 1.59985e-05
ADA [NCBI] 1.57335e-05
SJS1 [NCBI] 1.56969e-05
SLOS [NCBI] 1.03539e-05
CHH [NCBI] 9.89368e-06
proteus syndrome [NCBI] 9.71524e-06
NF1 [NCBI] 9.60712e-06
PSACH [NCBI] 9.5637e-06
PWS [NCBI] 9.22839e-06
FOP [NCBI] 8.93915e-06
CCD [NCBI] 7.94775e-06
CDLS1 [NCBI] 4.61837e-06
HD [NCBI] 4.31448e-06
PCNA [NCBI] 4.90429e-07
AS [NCBI] 2.72381e-07
BWS [NCBI] 1.45842e-07
EPO [NCBI] 1.06471e-07
MFS [NCBI] 6.75342e-08



Database Center for Life Science