Source: LHGDN

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: 1130
Gene Symbol: LYST
LYST
lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
disease 1.000 None 0.982 1 0 1968 2019
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
coproporphyrinogen oxidase 0.488 0.846 0.17
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria
disease 1.000 strong 0.938 1 0 1983 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 1 0 1970 2020
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 1.000 None 1.000 1 0 1994 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.575 0.654 0.74
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease 1.000 None 0.951 1 0 1992 2019
Entrez Id: 3930
Gene Symbol: LBR
LBR
lamin B receptor 0.473 0.808 0.18
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly
disease 1.000 strong 0.944 1 0 2002 2019
Entrez Id: 3931
Gene Symbol: LCAT
LCAT
lecithin-cholesterol acyltransferase 0.588 0.654 8.1E-02
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency
disease 1.000 None 0.974 1 0 1967 2019
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I
disease 1.000 strong 0.993 1 0 1977 2019
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4 0.587 0.808 3.1E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease 1.000 definitive 0.968 1 0 2001 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
Ornithine carbamoyltransferase deficiency
disease 1.000 definitive 1.000 1 0 1976 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia
disease 1.000 None 0.989 1 0 1992 2019
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 1 0 1989 2019
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
SH3 domain binding protein 2 0.623 0.654 1.2E-11
CUI: C0008029
Disease: Cherubism
Cherubism
disease 1.000 None 0.971 1 0 2001 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
disease 1.000 strong 0.972 1 0 1994 2019
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
transglutaminase 1 0.565 0.769 2.3E-13
Congenital Nonbullous Ichthyosiform Erythroderma
disease 1.000 limited 1.000 1 0 1994 2019
Entrez Id: 7390
Gene Symbol: UROS
UROS
uroporphyrinogen III synthase 0.678 0.462 3.2E-02
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic
disease 1.000 None 0.982 1 0 1990 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1
WT1 transcription factor 0.422 0.808 1.00
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome
disease 1.000 None 0.982 1 0 1991 2018
Entrez Id: 2161
Gene Symbol: F12
F12
coagulation factor XII 0.612 0.577 8.3E-08
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency
disease 0.970 definitive 1.000 1 0 1979 2019
Entrez Id: 2121
Gene Symbol: EVC
EVC
EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome
disease 0.960 definitive 1.000 1 0 2000 2018
Entrez Id: 1773
Gene Symbol: DNASE1
DNASE1
deoxyribonuclease 1 0.505 0.846 7.0E-21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.900 None 0.955 1 0 2000 2020
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I
disease 0.900 None 1.000 1 0 1983 2020
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome
disease 0.900 None 1.000 1 0 1997 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
interferon gamma 0.288 0.962 0.47
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease 0.900 limited 1.000 1 0 1992 2020
Entrez Id: 4312
Gene Symbol: MMP1
MMP1
matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease 0.900 limited 0.875 1 0 2002 2019
Entrez Id: 445
Gene Symbol: ASS1
ASS1
argininosuccinate synthase 1 0.523 0.731 1.5E-09
CUI: C0175683
Disease: Citrullinemia
Citrullinemia
disease 0.900 definitive 1.000 1 0 1982 2020