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: 9775
Gene Symbol: EIF4A3
EIF4A3
eukaryotic translation initiation factor 4A3 0.608 0.500 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 55733
Gene Symbol: HHAT
HHAT
hedgehog acyltransferase 0.608 0.577 3.2E-08
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 1.000 0 0 2012 2013
Entrez Id: 54808
Gene Symbol: DYM
DYM
dymeclin 0.563 0.769 3.6E-13
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140
intraflagellar transport 140 0.572 0.692 9.9E-24
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
lon peptidase 1, mitochondrial 0.517 0.808 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B
RAB33B, member RAS oncogene family 0.821 0.192 0.68
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
receptor interacting serine/threonine kinase 4 0.565 0.654 4.0E-03
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 5139
Gene Symbol: PDE3A
PDE3A
phosphodiesterase 3A 0.670 0.577 1.9E-04
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype 0.100 None 0 0