Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
calcium activated nucleotidase 1 0.619 0.731 2.5E-06
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
mitogen-activated protein kinase kinase kinase 7 0.477 0.808 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
transcriptional repressor GATA binding 1 0.537 0.769 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 51098
Gene Symbol: IFT52
IFT52
intraflagellar transport 52 0.653 0.538 2.0E-06
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
natriuretic peptide receptor 2 0.573 0.615 4.2E-05
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
beta 3-glucosyltransferase 0.554 0.731 7.1E-17
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
fibroblast growth factor receptor 1 0.362 0.885 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 22856
Gene Symbol: CHSY1
CHSY1
chondroitin sulfate synthase 1 0.612 0.615 0.71
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal
phenotype 0.100 None 0 0