Source: UNIPROT

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 80 198 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 44 40 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 43 184 2000 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 37 61 1986 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 34 54 1992 2018
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 31 33 2000 2012
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 28 80 1980 2019
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 27 21 2004 2019
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 22 131 1991 2017
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 22 12 1986 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 21 11 1986 2019
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 20 19 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 16 51 1995 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease 0.990 None 1.000 15 12 1989 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease 0.660 strong 1.000 15 29 1985 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease 0.950 strong 1.000 15 14 1991 2018
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		disease 0.600 None 1.000 15 33 1994 2011
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		disease 0.660 None 0.970 15 12 2001 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		disease 0.720 None 1.000 15 24 2002 2017
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 14 11 1997 2016
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 14 6 1991 2020
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 14 21 1996 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 13 37 2004 2020
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.800 None 0.986 13 7 1984 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease 1.000 None 0.976 12 17 1988 2019