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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 33 0 1973 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.477 0.724 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 0.969 20 0 1982 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.954 20 0 1966 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
cystic fibrosis transmembrane conductance regulator 0.453 0.793 1.1E-57
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease 1.000 0.948 18 0 1989 2018
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.393 0.862 0.84
Autoimmune Lymphoproliferative Syndrome
disease 1.000 0.941 17 0 1978 2017
Entrez Id: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.633 0.586 0.56
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 0.952 17 0 1963 2017
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.627 0.552 0.89
Ornithine carbamoyltransferase deficiency
disease 1.000 1.000 17 0 1983 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
disease 1.000 definitive 0.919 16 0 1989 2018
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.537 0.621 1.1E-04
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome
disease 1.000 0.972 14 0 1987 2018
Entrez Id: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.401 0.862 6.0E-46
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease 1.000 0.944 13 0 1978 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0033300
Disease: Progeria
Progeria
disease 1.000 0.959 12 0 1993 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.537 0.621 1.00
Polycystic Kidney, Autosomal Dominant
disease 1.000 definitive 0.972 12 0 1989 2018
Entrez Id: 7068
Gene Symbol: THRB
THRB
thyroid hormone receptor beta 0.584 0.690 1.00
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
disease 1.000 strong 0.989 12 0 1989 2017
Entrez Id: 5251
Gene Symbol: PHEX
PHEX
phosphate regulating endopeptidase homolog X-linked 0.609 0.690 1.00
Hypophosphatemic Rickets, X-Linked Dominant
disease 1.000 0.977 11 0 1977 2018
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.505 0.724 4.3E-32
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
disease 1.000 0.969 11 0 1981 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
fragile X mental retardation 1 0.492 0.690 0.69
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease 1.000 0.979 10 0 1991 2018
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
runt related transcription factor 2 0.490 0.621 0.96
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
disease 1.000 0.975 9 0 1993 2018
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.639 0.310 1.4E-35
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.962 9 0 1956 2018
Entrez Id: 695
Gene Symbol: BTK
BTK
Bruton tyrosine kinase 0.524 0.690 1.00
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia
disease 1.000 0.937 8 0 1975 2018
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 1.000 definitive 0.973 8 0 1997 2017
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
ATP binding cassette subfamily A member 1 0.484 0.793 3.5E-12
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
disease 1.000 0.989 7 0 1999 2017
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.380 0.793 0.98
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 0.940 7 0 1970 2018
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.547 0.621 5.4E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 0.976 7 0 1983 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3, battenin 0.614 0.586 1.1E-07
Juvenile Neuronal Ceroid Lipofuscinosis
disease 1.000 0.991 7 0 1991 2016
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
laminin subunit alpha 2 0.598 0.621 7.8E-47
Muscular dystrophy congenital, merosin negative
disease 1.000 0.962 7 0 1955 2017