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: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 9 0 1972 2019
Entrez Id: 6948
Gene Symbol: TCN2
TCN2 		transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		disease 0.330 None 1.000 1 0 1972 2003
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 20 0 1973 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease 0.900 strong 0.985 14 0 1973 2020
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease 0.600 strong 1.000 3 0 1973 2019
Entrez Id: 594
Gene Symbol: BCKDHB
BCKDHB 		branched chain keto acid dehydrogenase E1 subunit beta 0.682 0.500 4.3E-09
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease 0.800 None 1.000 3 0 1973 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease 0.500 None 0.978 1 0 1973 2020
Entrez Id: 6901
Gene Symbol: TAZ
TAZ 		tafazzin 0.477 0.808 0.73
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.190 None 1.000 1 0 1973 2018
Entrez Id: 3145
Gene Symbol: HMBS
HMBS 		hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease 1.000 strong 0.983 12 0 1974 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC 		proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.330 None 1.000 1 0 1974 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease 1.000 definitive 0.977 43 0 1975 2020
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease 0.200 None 0.977 13 0 1975 2020
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		disease 1.000 None 0.978 10 0 1975 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		cytochrome P450 family 27 subfamily A member 1 0.538 0.731 5.3E-19
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease 0.800 None 0.985 7 0 1975 2019
Entrez Id: 4023
Gene Symbol: LPL
LPL 		lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype 0.600 None 0.988 7 0 1975 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 1.000 None 1.000 6 0 1975 2019
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.600 None 0.969 6 0 1975 2020
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		galactosidase beta 1 0.448 0.808 7.9E-10
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		disease 0.700 None 0.990 4 0 1975 2019
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG 		CD40 ligand 0.414 0.846 0.72
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.100 None 0.980 3 0 1975 2019
Entrez Id: 1621
Gene Symbol: DBH
DBH 		dopamine beta-hydroxylase 0.511 0.846 3.3E-10
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.250 None 0.833 1 0 1975 2019
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease 0.360 None 1.000 1 0 1975 2019
Entrez Id: 54704
Gene Symbol: PDP1
PDP1 		pyruvate dehyrogenase phosphatase catalytic subunit 1 0.691 0.462 0.45
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype 0.010 None 1.000 1 0 1975 1975
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype 0.100 None 1.000 1 0 1975 2020
Entrez Id: 973
Gene Symbol: CD79A
CD79A 		CD79a molecule 0.536 0.731 0.69
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.040 None 1.000 1 0 1975 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.500 None 0.976 120 0 1976 2019