Source: ALL

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: 675
Gene Symbol: BRCA2
BRCA2
BRCA2, DNA repair associated 0.426 0.793 5.5E-24
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 1.000 584 820 1996 2018
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
solute carrier family 6 member 4 0.446 0.724 0.26
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease 0.600 1.000 305 7 1997 2018
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
solute carrier family 6 member 4 0.446 0.724 0.26
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease 0.600 1.000 291 6 1997 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.251 0.897 0.17
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 1.000 275 150 1991 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.382 0.828 0.70
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease 0.600 1.000 192 6 2003 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.382 0.828 0.70
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease 0.600 1.000 188 6 2003 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
group 0.600 1.000 166 2 1983 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.424 0.759 5.1E-05
Hereditary Non-Polyposis Colon Cancer Type 2
disease 0.610 1.000 149 136 1991 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.460 0.793 1.00
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
disease 0.100 1.000 144 0 1992 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.616 0.517 1.0E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease
disease 0.900 1.000 137 94 1983 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.334 0.828 0.82
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.150 1.000 132 159 1997 2018
Entrez Id: 3423
Gene Symbol: IDS
IDS
iduronate 2-sulfatase 0.616 0.655 0.94
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
disease 1.000 definitive 1.000 130 65 1991 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease 0.500 1.000 129 4 2004 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH
mutY DNA glycosylase 0.551 0.621 2.7E-17
Colorectal Adenomatous Polyposis, Autosomal Recessive
disease 0.710 definitive 1.000 128 75 1987 2018
Entrez Id: 324
Gene Symbol: APC
APC
APC, WNT signaling pathway regulator 0.397 0.828 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.110 1.000 127 199 1991 2017
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.579 0.517 1.00
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group 0.100 1.000 126 0 1995 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
parkin RBR E3 ubiquitin protein ligase 0.464 0.793
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
disease 0.900 1.000 121 25 1995 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
von Hippel-Lindau tumor suppressor 0.464 0.586 5.5E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group 0.170 1.000 120 47 1994 2017
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.627 0.552 0.89
Ornithine carbamoyltransferase deficiency
disease 1.000 1.000 120 123 1983 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.341 0.897 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.400 1.000 120 1 2004 2018
Entrez Id: 217
Gene Symbol: ALDH2
ALDH2
aldehyde dehydrogenase 2 family member 0.481 0.862 2.5E-09
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease 0.700 1.000 118 3 1991 2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.527 0.621 0.84
Charcot-Marie-Tooth disease, X-linked, 1
disease 1.000 1.000 117 58 1979 2018
Entrez Id: 3558
Gene Symbol: IL2
IL2
interleukin 2 0.373 0.931 0.49
CUI: C0025202
Disease: melanoma
melanoma
disease 0.400 1.000 117 0 1990 2015
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
iduronidase, alpha-L- 0.558 0.724 7.1E-10
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
disease 0.700 1.000 115 17 1992 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.490 0.690 0.98
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
disease 0.610 1.000 114 88 1993 2017