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: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.800 None 0.982 3 0 1985 2019
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
NAD synthetase 1 0.780 0.231 1.3E-16
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2020 2020
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.974 4 0 1994 2020
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
forkhead box I1 0.686 0.462 0.77
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
phenotype 0.400 strong 1.000 1 0 2016 2016
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: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.450 strong 1.000 0 0 2001 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype 0.310 strong 1.000 2 0 2007 2013
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
sphingosine-1-phosphate lyase 1 0.597 0.731 3.6E-03
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.700 strong 1.000 0 0 1989 2019
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
transcobalamin 2 0.578 0.615 1.0E-06
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.300 strong 1.000 3 0 1999 2009
Entrez Id: 29760
Gene Symbol: BLNK
BLNK
B cell linker 0.603 0.731 0.61
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.610 strong 1.000 1 0 2015 2015
Entrez Id: 3507
Gene Symbol: IGHM
IGHM
immunoglobulin heavy constant mu 0.644 0.654
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.600 strong 1.000 1 0 2002 2002
Entrez Id: 3543
Gene Symbol: IGLL1
IGLL1
immunoglobulin lambda like polypeptide 1 0.678 0.538 1.4E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.600 strong 1.000 1 0 2016 2016
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.410 strong 1.000 1 0 2012 2014
Entrez Id: 6929
Gene Symbol: TCF3
TCF3
transcription factor 3 0.476 0.846 2.6E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.600 strong 1.000 1 0 2017 2017
Entrez Id: 7922
Gene Symbol: SLC39A7
SLC39A7
solute carrier family 39 member 7 0.743 0.385 8.2E-02
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 973
Gene Symbol: CD79A
CD79A
CD79a molecule 0.536 0.731 0.69
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.620 strong 1.000 1 0 2002 2018
Entrez Id: 974
Gene Symbol: CD79B
CD79B
CD79b molecule 0.576 0.577 0.92
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.610 strong 1.000 1 0 2008 2014
Entrez Id: 56262
Gene Symbol: LRRC8A
LRRC8A
leucine rich repeat containing 8 VRAC subunit A 0.644 0.692 0.94
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease 0.620 limited 0.500 0 0 2003 2017
Entrez Id: 811
Gene Symbol: CALR
CALR
calreticulin 0.413 0.923 0.89
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 0.800 limited 0.929 1 0 2013 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.968 0 0 2005 2020