Source: CLINVAR

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: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1 		DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A 		kinesin family member 2A 0.590 0.731 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1
Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7 		TNF receptor associated factor 7 0.623 0.423 2.2E-02
CUI: C3150613
Disease: Long toe
Long toe 		phenotype 0.100 None 0 1