Source: GENOMICS_ENGLAND

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: 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 11 0 1975 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 11 0 1977 2020
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 10 0 1968 2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease 1.000 None 0.989 10 0 1997 2020
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
Congenital disorder of glycosylation type 1A
disease 0.800 None 1.000 9 0 1995 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
Porencephaly, Type 1, Autosomal Dominant
disease 0.900 None 1.000 8 0 1977 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 None 0.984 8 0 1983 2020
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 8 0 1976 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1
disease 0.910 None 1.000 8 0 2001 2019
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
disease 0.700 None 1.000 8 0 2000 2018
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1
disease 0.900 None 1.000 7 0 2004 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease 0.800 None 0.976 7 0 1994 2019
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
disease 0.800 None 1.000 7 0 1994 2019
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
disease 0.600 None 1.000 7 0 2005 2017
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.576 0.731 0.17
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria
disease 0.800 None 1.000 7 0 1992 2019
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 7 0 1953 2020
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
disease 1.000 None 0.971 7 0 1991 2019
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
disease 0.700 None 1.000 7 0 2009 2018
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
disease 0.600 None 1.000 7 0 1997 2017
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
disease 0.600 None 1.000 7 0 2001 2016
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder)
disease 0.700 None 1.000 7 0 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder)
disease 0.700 None 1.000 7 0 2008 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1
disease 0.700 None 1.000 7 0 2001 2018
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
ryanodine receptor 2 0.539 0.615 1.00
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
disease 1.000 None 0.995 7 0 2001 2020
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
disease 0.600 None 1.000 7 0 2005 2016