Source: INFERRED

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: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		disease 1.000 None 0.968 4 13 1996 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		disease 0.700 None 1.000 0 3 2006 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.680 None 1.000 1 1 2004 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		disease 0.500 None 0.944 0 8 2006 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.460 None 1.000 7 3 2007 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis 		disease 0.310 None 1.000 0 0 2016 2018
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.190 None 1.000 0 0 2011 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease 0.140 None 1.000 0 0 2016 2018
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis 		disease 0.100 None 1.000 2 1 2012 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease 0.100 None 1.000 1 1 2011 2011
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1836195
Disease: Short toe
Short toe 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1844573
Disease: Large earlobe
Large earlobe 		phenotype 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		notch receptor 2 0.441 0.808 1.00
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0