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: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2 		tectonic family member 2 0.578 0.654 1.8E-14
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		centrosome and spindle pole associated protein 1 0.544 0.769 3.3E-29
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 55165
Gene Symbol: CEP55
CEP55 		centrosomal protein 55 0.534 0.731 2.0E-12
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 29887
Gene Symbol: SNX10
SNX10 		sorting nexin 10 0.633 0.577 3.4E-10
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B 		SH3 and PX domains 2B 0.631 0.577 4.2E-03
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1 		B9 domain containing 1 0.572 0.692 2.8E-03
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		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: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		anoctamin 5 0.619 0.538 2.9E-22
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2 		establishment of sister chromatid cohesion N-acetyltransferase 2 0.581 0.615 3.2E-07
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 1399
Gene Symbol: CRKL
CRKL 		CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		chloride voltage-gated channel 7 0.590 0.731 0.27
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 0.565 0.692 2.4E-13
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		lamin B receptor 0.473 0.808 0.18
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 0.559 0.654 6.7E-08
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216 		transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP 		WD repeat containing planar cell polarity effector 0.576 0.769 1.1E-10
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0