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: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease 0.300 strong 1.000 2 0 2017 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.300 strong 1.000 2 0 2017 2019
Entrez Id: 10383
Gene Symbol: TUBB4B
TUBB4B 		tubulin beta 4B class IVb 0.650 0.654 0.81
CUI: C4693498
Disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		disease 0.600 moderate 1.000 1 0 2017 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		disease 0.310 disputed 1.000 1 0 2017 2017
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		disease 0.300 disputed 1.000 1 0 2017 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		protein tyrosine phosphatase receptor type J 0.606 0.615 1.3E-11
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		protein tyrosine phosphatase receptor type J 0.606 0.615 1.3E-11
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		protein tyrosine phosphatase receptor type J 0.606 0.615 1.3E-11
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		protein tyrosine phosphatase receptor type J 0.606 0.615 1.3E-11
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 5795
Gene Symbol: PTPRJ
PTPRJ 		protein tyrosine phosphatase receptor type J 0.606 0.615 1.3E-11
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 80736
Gene Symbol: SLC44A4
SLC44A4 		solute carrier family 44 member 4 0.678 0.615 1.0E-14
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.310 1.000 0 0 2017 2017
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1 		pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C4310645
Disease: MYOPATHY, MYOFIBRILLAR, 8
MYOPATHY, MYOFIBRILLAR, 8 		disease 0.700 definitive 1.000 4 0 2016 2019
Entrez Id: 84131
Gene Symbol: CEP78
CEP78 		centrosomal protein 78 0.686 0.346 6.2E-12
CUI: C4310657
Disease: CONE-ROD DYSTROPHY AND HEARING LOSS
CONE-ROD DYSTROPHY AND HEARING LOSS 		disease 0.710 strong 1.000 4 0 2016 2017
Entrez Id: 54800
Gene Symbol: KLHL24
KLHL24 		kelch like family member 24 0.821 0.115 1.7E-03
CUI: C4310631
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 		disease 0.700 strong 1.000 2 0 2016 2018
Entrez Id: 10461
Gene Symbol: MERTK
MERTK 		MER proto-oncogene, tyrosine kinase 0.531 0.692 2.7E-11
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 160335
Gene Symbol: TMTC2
TMTC2 		transmembrane O-mannosyltransferase targeting cadherins 2 0.760 0.269 2.3E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 disputed 1.000 1 0 2016 2016
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		forkhead box E3 0.568 0.654 0.18
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 moderate 1.000 1 0 2016 2016
Entrez Id: 23362
Gene Symbol: PSD3
PSD3 		pleckstrin and Sec7 domain containing 3 0.691 0.423 9.5E-03
CUI: C1867439
Disease: Pterygium, Antecubital
Pterygium, Antecubital 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 23558
Gene Symbol: WBP2
WBP2 		WW domain binding protein 2 0.722 0.269 0.35
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 4919
Gene Symbol: ROR1
ROR1 		receptor tyrosine kinase like orphan receptor 1 0.552 0.731 1.00
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 5921
Gene Symbol: RASA1
RASA1 		RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.300 disputed 1.000 1 0 2016 2016
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease 0.350 1.000 0 0 2016 2019