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: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.800 None 1.000 42 22 2000 2020
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.520 None 1.000 3 0 2006 2009
Entrez Id: 208
Gene Symbol: AKT2
AKT2 		AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1 		perilipin 1 0.590 0.654 3.1E-11
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.300 None 0 0
Entrez Id: 3991
Gene Symbol: LIPE
LIPE 		lipase E, hormone sensitive type 0.599 0.500 9.7E-12
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.300 None 0 0
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC 		cell death inducing DFFA like effector c 0.666 0.462 9.0E-03
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.300 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.200 None 0 0
Entrez Id: 3643
Gene Symbol: INSR
INSR 		insulin receptor 0.432 0.846 3.6E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.020 None 1.000 2 0 1988 1995
Entrez Id: 896
Gene Symbol: CCND3
CCND3 		cyclin D3 0.554 0.654 0.98
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 50964
Gene Symbol: SOST
SOST 		sclerostin 0.474 0.808 0.87
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4023
Gene Symbol: LPL
LPL 		lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 3952
Gene Symbol: LEP
LEP 		leptin 0.349 0.846 0.46
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A 		hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1803
Gene Symbol: DPP4
DPP4 		dipeptidyl peptidase 4 0.420 0.808 7.3E-09
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9452
Gene Symbol: ITM2A
ITM2A 		integral membrane protein 2A 0.751 0.462 0.20
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		disease 0.010 None 1.000 1 0 2017 2017