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: 34
Gene Symbol: ACADM
ACADM
acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
Medium-chain acyl-coenzyme A dehydrogenase deficiency
disease 1.000 definitive 0.991 88 106 1983 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0270726
Disease: Alexander Disease
Alexander Disease
disease 1.000 None 0.972 87 89 1976 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease 1.000 None 0.992 85 123 2001 2019
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 83 94 1975 2019
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
disease 1.000 definitive 0.987 78 84 1987 2018
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
Very long chain acyl-CoA dehydrogenase deficiency
disease 1.000 definitive 0.989 77 108 1985 2020
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
disease 1.000 None 1.000 74 71 1987 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.582 0.692 3.7E-33
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
disease 1.000 None 0.992 74 139 1989 2019
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease 1.000 strong 0.961 73 154 1989 2020
Entrez Id: 686
Gene Symbol: BTD
BTD
biotinidase 0.628 0.654 1.5E-07
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency
disease 1.000 definitive 0.988 72 186 1993 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: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease 1.000 definitive 0.982 70 11 2001 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: 6584
Gene Symbol: SLC22A5
SLC22A5
solute carrier family 22 member 5 0.608 0.731 5.3E-16
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease 1.000 definitive 0.979 66 90 1985 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
disease 1.000 definitive 0.990 65 126 1956 2020
Entrez Id: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0026709
Disease: Mucopolysaccharidosis VI
Mucopolysaccharidosis VI
disease 1.000 strong 1.000 64 109 1979 2019
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: 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
Entrez Id: 2160
Gene Symbol: F11
F11
coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency
disease 1.000 strong 1.000 58 76 1981 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease 1.000 strong 0.980 56 33 1976 2019
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 1.000 None 0.983 56 31 1986 2020
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
folliculin 0.537 0.885 0.79
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas
disease 1.000 definitive 0.968 55 88 2002 2020
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 55 74 1997 2019
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
disease 1.000 definitive 0.974 54 16 1982 2020
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 None 0.985 53 60 1991 2020