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: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		disease 1.000 definitive 0.992 15 0 1997 2019
Entrez Id: 4763
Gene Symbol: NF1
NF1 		neurofibromin 1 0.440 0.885 0.90
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease 1.000 None 0.976 14 0 1977 2020
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3 		integrin subunit beta 3 0.485 0.846 1.7E-03
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		disease 1.000 definitive 1.000 13 0 1982 2020
Entrez Id: 1050
Gene Symbol: CEBPA
CEBPA 		CCAAT enhancer binding protein alpha 0.496 0.692 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 1.000 definitive 0.985 12 0 1992 2020
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: 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: 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: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria 		disease 1.000 None 0.967 12 0 2003 2020
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease 1.000 None 0.993 12 0 1993 2020
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		disease 1.000 None 0.974 12 0 1976 2020
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		exostosin glycosyltransferase 1 0.522 0.769 1.00
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		disease 1.000 definitive 0.977 11 0 1989 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group 1.000 strong 0.955 11 0 1987 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: 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: 641
Gene Symbol: BLM
BLM 		BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		disease 1.000 definitive 0.994 10 0 1994 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease 1.000 definitive 0.977 10 0 1988 2020
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C0039445
Disease: Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia 		disease 1.000 definitive 0.991 9 0 1994 2019
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 9 0 1999 2018
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: 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: 5837
Gene Symbol: PYGM
PYGM 		glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease 1.000 None 0.989 9 0 1983 2020
Entrez Id: 7486
Gene Symbol: WRN
WRN 		WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease 1.000 definitive 0.952 9 0 1993 2019
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease 1.000 definitive 0.977 8 0 1981 2020
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: 4010
Gene Symbol: LMX1B
LMX1B 		LIM homeobox transcription factor 1 beta 0.565 0.731 0.75
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		disease 1.000 None 0.937 8 0 1991 2020