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: 2303
Gene Symbol: FOXC2
FOXC2
forkhead box C2 0.515 0.731 0.13
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
T-box transcription factor 2 0.544 0.769 0.99
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6655
Gene Symbol: SOS2
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB
small nuclear ribonucleoprotein polypeptides B and B1 0.595 0.731 0.71
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
xylosyltransferase 2 0.566 0.808 0.93
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6237
Gene Symbol: RRAS
RRAS
RAS related 0.543 0.808 4.7E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6229
Gene Symbol: RPS24
RPS24
ribosomal protein S24 0.695 0.423 0.68
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 9935
Gene Symbol: MAFB
MAFB
MAF bZIP transcription factor B 0.565 0.731 0.90
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 9780
Gene Symbol: PIEZO1
PIEZO1
piezo type mechanosensitive ion channel component 1 0.552 0.769 3.9E-21
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
growth differentiation factor 3 0.595 0.500 4.1E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
phosphatidylinositol glycan anchor biosynthesis class L 0.581 0.731 6.2E-09
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease 0.100 None 0 0