Source: CURATED

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: 2157
Gene Symbol: F8
F8 		coagulation factor VIII 0.542 0.769 1.00
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease 1.000 definitive 0.983 91 263 1977 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 60 991 1973 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease 0.800 None 1.000 46 390 2000 2018
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		disease 1.000 definitive 1.000 43 390 1980 2019
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1 		disease 1.000 definitive 0.986 43 133 1992 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease 0.890 None 1.000 38 61 1986 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease 0.730 None 1.000 32 58 2000 2012
Entrez Id: 4771
Gene Symbol: NF2
NF2 		neurofibromin 2 0.468 0.885 1.00
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		disease 1.000 definitive 0.987 28 46 1991 2020
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		disease 0.700 None 1.000 28 65 2004 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		disease 1.000 None 0.984 27 18 1986 2020
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		myosin heavy chain 9 0.505 0.808 1.00
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype 1.000 definitive 1.000 25 17 1998 2020
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		disease 0.900 strong 1.000 24 450 1991 2017
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease 1.000 strong 0.961 24 160 1989 2020
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		disease 1.000 definitive 1.000 24 12 1986 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease 1.000 definitive 0.981 24 204 2004 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 23 104 1960 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		disease 0.800 None 0.960 23 24 1993 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		disease 0.800 None 0.992 21 250 1995 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		disease 1.000 None 0.988 21 60 1996 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		disease 0.700 definitive 0.987 20 0 2002 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		disease 0.710 None 1.000 19 48 1997 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		TSC complex subunit 1 0.440 0.808 1.00
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		disease 0.690 definitive 1.000 19 128 1996 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
Porencephaly, Type 1, Autosomal Dominant 		disease 0.900 None 1.000 18 15 1977 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease 1.000 strong 0.980 18 151 1981 2020
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease 1.000 None 0.989 18 250 1997 2020