Source: CLINVAR

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: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.200 None 1.000 73 37 1976 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		disease 0.930 None 0.987 72 135 1995 2017
Entrez Id: 6392
Gene Symbol: SDHD
SDHD 		succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 72 31 1998 2016
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 71 103 1989 2018
Entrez Id: 2271
Gene Symbol: FH
FH 		fumarate hydratase 0.489 0.846 8.8E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.150 None 1.000 70 63 1997 2019
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 70 89 1972 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 69 69 1975 2019
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		disease 0.800 None 1.000 68 63 1995 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 68 23 2000 2020
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		disease 0.800 None 0.992 67 80 1973 2020
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		disease 0.700 None 1.000 66 44 1993 2020
Entrez Id: 999
Gene Symbol: CDH1
CDH1 		cadherin 1 0.401 0.808 0.15
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.130 None 1.000 66 87 1994 2019
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C3150344
Disease: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 		disease 0.100 None 1.000 65 24 1991 2018
Entrez Id: 10020
Gene Symbol: GNE
GNE 		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease 0.800 None 1.000 64 66 2001 2019
Entrez Id: 1211
Gene Symbol: CLTA
CLTA 		clathrin light chain A 0.628 0.654 0.96
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		disease 0.100 None 1.000 64 66 2001 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease 0.800 None 0.983 63 21 1982 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3 		disease 0.900 None 0.993 62 33 1995 2020
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C4551630
Disease: Ichthyosis Congenita I
Ichthyosis Congenita I 		disease 0.900 None 1.000 62 64 1995 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		usherin 0.579 0.692 1.6E-94
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease 0.200 None 0.990 62 35 1998 2019
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		NPHS2 stomatin family member, podocin 0.576 0.538 7.2E-09
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		disease 0.680 None 1.000 62 51 1995 2018
Entrez Id: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease 0.800 None 0.986 60 151 1984 2020
Entrez Id: 7827
Gene Symbol: NPHS2
NPHS2 		NPHS2 stomatin family member, podocin 0.576 0.538 7.2E-09
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		disease 0.610 None 1.000 60 50 2000 2018
Entrez Id: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 1.000 None 0.988 59 123 1987 2020
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		folliculin 0.537 0.885 0.79
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group 0.100 None 1.000 59 58 2000 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 59 94 1970 2020