Source: CLINGEN

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: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.600 disputed 1.000 2 0 2015 2016
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.300 0 0
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		alpha-2-macroglobulin like 1 0.590 0.692 1.6E-34
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 0 0
Entrez Id: 7486
Gene Symbol: WRN
WRN 		WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease 1.000 definitive 0.952 7 0 1993 2019
Entrez Id: 54795
Gene Symbol: TRPM4
TRPM4 		transient receptor potential cation channel subfamily M member 4 0.633 0.577 5.7E-33
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 0.530 disputed 1.000 7 0 2012 2018
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		myosin heavy chain 6 0.581 0.615 1.6E-32
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.660 limited 1.000 5 0 1984 2019
Entrez Id: 84700
Gene Symbol: MYO18B
MYO18B 		myosin XVIIIB 0.628 0.615 1.0E-31
CUI: C4225285
Disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM 		disease 0.700 limited 1.000 5 0 2003 2017
Entrez Id: 124093
Gene Symbol: CCDC78
CCDC78 		coiled-coil domain containing 78 0.760 0.115 3.0E-31
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease 0.500 limited 1.000 2 0 2012 2015
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.510 limited 1.000 1 0 2014 2014
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		disease 0.300 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		disease 0.300 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease 0.300 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.300 0 0
Entrez Id: 5922
Gene Symbol: RASA2
RASA2 		RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 0 0
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 6 0 1996 2016
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 limited 1.000 6 0 1996 2016
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.390 limited 0.857 6 0 1996 2018
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 6 0 1996 2016
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 6 0 1996 2016
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C4310719
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 4
FAMILIAL ADENOMATOUS POLYPOSIS 4 		disease 0.600 moderate 1.000 2 0 2000 2016
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B 		ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		disease 1.000 definitive 0.980 9 0 1983 2020
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease 0.310 limited 1.000 7 0 2005 2016