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: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.110 None 1.000 0 0 1990 1990
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6305
Gene Symbol: SBF1
SBF1
SET binding factor 1 0.700 0.500 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6301
Gene Symbol: SARS1
SARS1
seryl-tRNA synthetase 1 0.558 0.769 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
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: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
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: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0016202
Disease: Flatfoot
Flatfoot
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: C0016202
Disease: Flatfoot
Flatfoot
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: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
xylosyltransferase 1 0.581 0.731 0.92
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
tachykinin receptor 3 0.553 0.769 1.8E-17
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6855
Gene Symbol: SYP
SYP
synaptophysin 0.481 0.808 0.92
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype 0.100 None 0 0