Source: ALL

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: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA 		FA complementation group A 0.505 0.731 1.6E-68
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0016202
Disease: Flatfoot
Flatfoot 		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: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141 		coiled-coil domain containing 141 0.666 0.538 1.6E-33
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2 		FA complementation group D2 0.479 0.885 1.1E-30
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: 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: 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: 55120
Gene Symbol: FANCL
FANCL 		FA complementation group L 0.551 0.731 5.9E-23
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		cullin 7 0.633 0.500 2.6E-21
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ 		protein tyrosine phosphatase receptor type Q 0.751 0.462 4.2E-21
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 1
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 1
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
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: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
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: 9179
Gene Symbol: AP4M1
AP4M1 		adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype 0.100 None 0 0
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		cyclin dependent kinase 10 0.650 0.577 1.2E-16
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