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: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.700 None 1.000 144 16 1988 2020
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease 0.710 definitive 1.000 144 151 1994 2017
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		disease 0.900 strong 1.000 143 29 1992 2020
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		nuclear receptor subfamily 0 group B member 1 0.494 0.808 0.97
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia 		disease 1.000 strong 1.000 142 59 1994 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease 1.000 None 1.000 142 120 1982 2019
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease 1.000 None 1.000 142 111 1970 2020
Entrez Id: 2956
Gene Symbol: MSH6
MSH6 		mutS homolog 6 0.462 0.731 3.7E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group 0.640 definitive 1.000 142 283 1991 2017
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		disease 1.000 None 1.000 141 29 1989 2019
Entrez Id: 11009
Gene Symbol: IL24
IL24 		interleukin 24 0.498 0.769 5.9E-07
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.100 None 1.000 140 0 1995 2019
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11 		F-box protein 11 0.604 0.692 1.00
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease 0.100 None 1.000 140 237 1997 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 139 215 1990 2018
Entrez Id: 4595
Gene Symbol: MUTYH
MUTYH 		mutY DNA glycosylase 0.521 0.769 1.3E-18
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		disease 0.710 definitive 1.000 138 112 1987 2018
Entrez Id: 5009
Gene Symbol: OTC
OTC 		ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease 1.000 definitive 1.000 138 139 1976 2018
Entrez Id: 217
Gene Symbol: ALDH2
ALDH2 		aldehyde dehydrogenase 2 family member 0.457 0.885 3.4E-10
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease 0.700 None 1.000 137 4 1991 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO 		rhodopsin 0.525 0.769 1.3E-04
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		disease 0.100 None 1.000 136 22 1988 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0268407
Disease: Senile cardiac amyloidosis
Senile cardiac amyloidosis 		disease 0.400 strong 1.000 136 12 1990 2020
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.400 None 1.000 136 7 1996 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.110 None 1.000 135 49 1994 2017
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.400 None 1.000 135 7 1996 2020
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease 0.800 definitive 1.000 134 115 1959 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		group 0.500 None 1.000 132 37 1969 2019
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		disease 1.000 definitive 1.000 132 99 1953 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C3668940
Disease: Dmd-Associated Dilated Cardiomyopathy
Dmd-Associated Dilated Cardiomyopathy 		disease 0.800 None 1.000 128 165 1992 2018
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica 		disease 0.900 None 1.000 128 15 1992 2019
Entrez Id: 5741
Gene Symbol: PTH
PTH 		parathyroid hormone 0.397 0.846 1.2E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.600 None 1.000 127 0 1997 2020