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: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 20 0 1953 2020
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 10 0 1953 2019
Entrez Id: 3081
Gene Symbol: HGD
HGD 		homogentisate 1,2-dioxygenase 0.631 0.577 3.0E-08
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease 1.000 definitive 0.982 2 0 1955 2019
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease 0.800 None 0.994 2 0 1957 2020
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		disease 1.000 definitive 0.994 9 0 1960 2020
Entrez Id: 3043
Gene Symbol: HBB
HBB 		hemoglobin subunit beta 0.494 0.808 1.2E-09
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease 0.800 strong 0.994 16 0 1961 2019
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		proteolipid protein 1 0.543 0.769 0.93
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		disease 1.000 definitive 0.979 8 0 1962 2019
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0016395
Disease: Focal Dermal Hypoplasia
Focal Dermal Hypoplasia 		disease 1.000 None 0.968 3 0 1962 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease 0.900 strong 0.982 23 0 1964 2020
Entrez Id: 1908
Gene Symbol: EDN3
EDN3 		endothelin 3 0.608 0.577 2.5E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.700 None 1.000 2 0 1964 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 1.000 definitive 0.994 12 0 1965 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.700 None 1.000 4 0 1966 2019
Entrez Id: 3953
Gene Symbol: LEPR
LEPR 		leptin receptor 0.433 0.808 0.99
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.600 None 0.975 1 0 1966 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		disease 0.700 None 0.974 1 0 1966 2020
Entrez Id: 2717
Gene Symbol: GLA
GLA 		galactosidase alpha 0.537 0.769 1.00
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		disease 1.000 definitive 0.992 12 0 1967 2020
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: 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: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease 1.000 None 0.966 19 0 1970 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: 2592
Gene Symbol: GALT
GALT 		galactose-1-phosphate uridylyltransferase 0.612 0.654 2.1E-06
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease 0.800 None 0.963 1 0 1970 2019
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		disease 1.000 definitive 0.985 8 0 1971 2020
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease 0.800 strong 0.987 3 0 1971 2019
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1 		serpin family G member 1 0.507 0.769 0.96
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		disease 0.600 strong 0.991 2 0 1971 2020
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		disease 0.500 None 0.970 1 0 1971 2020
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group 0.400 None 0.976 1 0 1971 2020