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: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1
ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 63035
Gene Symbol: BCORL1
BCORL1
BCL6 corepressor like 1 0.682 0.500 1.00
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
chromosome X open reading frame 56 0.705 0.385 0.95
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0