Source: MGD

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: 4035
Gene Symbol: LRP1
LRP1 		LDL receptor related protein 1 0.482 0.769 1.00
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.300 None 0.935 0 0 1996 2019
Entrez Id: 4311
Gene Symbol: MME
MME 		membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.300 None 0.955 0 0 2001 2020
Entrez Id: 5300
Gene Symbol: PIN1
PIN1 		peptidylprolyl cis/trans isomerase, NIMA-interacting 1 0.488 0.769 0.74
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.300 None 0.979 0 0 2001 2019
Entrez Id: 5328
Gene Symbol: PLAU
PLAU 		plasminogen activator, urokinase 0.425 0.923 2.3E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.680 None 1.000 0 0 2002 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.700 None 0.971 0 0 1990 2020
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.290 None 1.000 0 0 2004 2020
Entrez Id: 90865
Gene Symbol: IL33
IL33 		interleukin 33 0.409 0.885 8.3E-10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.240 None 1.000 0 0 2009 2018
Entrez Id: 10117
Gene Symbol: ENAM
ENAM 		enamelin 0.674 0.346 1.3E-12
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.700 None 1.000 2 0 1997 2019
Entrez Id: 266
Gene Symbol: AMELY
AMELY 		amelogenin Y-linked 0.743 0.269 8.4E-05
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.200 None 1.000 2 0 2001 2010
Entrez Id: 256764
Gene Symbol: WDR72
WDR72 		WD repeat domain 72 0.716 0.385 2.7E-27
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.380 None 1.000 1 0 2009 2019
Entrez Id: 9313
Gene Symbol: MMP20
MMP20 		matrix metallopeptidase 20 0.663 0.538 6.1E-14
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.400 None 1.000 1 0 2002 2017
Entrez Id: 84957
Gene Symbol: RELT
RELT 		RELT TNF receptor 0.821 0.077 1.1E-06
CUI: C0002452
Disease: Amelogenesis Imperfecta
Amelogenesis Imperfecta 		disease 0.320 None 1.000 0 0 2019 2019
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		dehydrogenase E1 and transketolase domain containing 1 0.711 0.385 2.8E-30
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group 0.200 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.200 None 1.000 1 0 2013 2013
Entrez Id: 64397
Gene Symbol: ZNF106
ZNF106 		zinc finger protein 106 0.890 0.154 1.1E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.210 None 1.000 1 0 2017 2017
Entrez Id: 104
Gene Symbol: ADARB1
ADARB1 		adenosine deaminase RNA specific B1 0.588 0.654 0.80
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.300 None 1.000 0 0 2008 2019
Entrez Id: 5704
Gene Symbol: PSMC4
PSMC4 		proteasome 26S subunit, ATPase 4 0.931 0.077 0.30
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.200 None 0 0
Entrez Id: 22821
Gene Symbol: RASA3
RASA3 		RAS p21 protein activator 3 0.769 0.308 1.9E-10
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.200 None 1.000 1 0 2018 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.900 limited 1.000 1 0 1992 2020
Entrez Id: 4124
Gene Symbol: MAN2A1
MAN2A1 		mannosidase alpha class 2A member 1 0.705 0.538 1.6E-10
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		disease 0.200 None 0 0
Entrez Id: 85480
Gene Symbol: TSLP
TSLP 		thymic stromal lymphopoietin 0.486 0.808 4.0E-03
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		disease 0.200 None 0 0
Entrez Id: 2821
Gene Symbol: GPI
GPI 		glucose-6-phosphate isomerase 0.491 0.769 2.8E-06
CUI: C0002882
Disease: Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hemolytic, Congenital Nonspherocytic 		disease 0.240 None 1.000 2 0 1990 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		disease 0.200 None 0 0
Entrez Id: 6708
Gene Symbol: SPTA1
SPTA1 		spectrin alpha, erythrocytic 1 0.638 0.538 2.6E-18
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease 0.200 None 1.000 5 0 1978 1995
Entrez Id: 1946
Gene Symbol: EFNA5
EFNA5 		ephrin A5 0.615 0.654 0.96
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease 0.200 None 1.000 2 0 2000 2000