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: 2317
Gene Symbol: FLNB
FLNB 		filamin B 0.458 0.923 6.1E-10
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 25839
Gene Symbol: COG4
COG4 		component of oligomeric golgi complex 4 0.631 0.615 4.0E-09
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 25886
Gene Symbol: POC1A
POC1A 		POC1 centriolar protein A 0.650 0.500 3.3E-06
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		homeobox D13 0.483 0.808 8.6E-03
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2 		potassium inwardly rectifying channel subfamily J member 2 0.572 0.731 0.31
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 83452
Gene Symbol: RAB33B
RAB33B 		RAB33B, member RAS oncogene family 0.821 0.192 0.68
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0