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: 2187
Gene Symbol: FANCB
FANCB 		FA complementation group B 0.468 0.769 1.00
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 2178
Gene Symbol: FANCE
FANCE 		FA complementation group E 0.553 0.808 1.5E-06
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		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: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 2176
Gene Symbol: FANCC
FANCC 		FA complementation group C 0.507 0.808 2.8E-13
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		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: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 10459
Gene Symbol: MAD2L2
MAD2L2 		mitotic arrest deficient 2 like 2 0.547 0.731 8.2E-02
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 2189
Gene Symbol: FANCG
FANCG 		FA complementation group G 0.556 0.769 2.5E-14
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		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: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		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: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 5307
Gene Symbol: PITX1
PITX1 		paired like homeodomain 1 0.561 0.654 0.88
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		matrix metallopeptidase 13 0.452 0.923 7.9E-18
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		homeobox D13 0.483 0.808 8.6E-03
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T 		ubiquitin conjugating enzyme E2 T 0.550 0.731 1.1E-05
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		plexin D1 0.647 0.577 1.00
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4 		splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C2749463
Disease: Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the radius 		phenotype 0.100 None 0 0