Source: MGD

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: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV
disease 1.000 None 1.000 3 0 1996 2017
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.700 strong 1.000 2 0 2002 2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
Lipodystrophy, not elsewhere classified
disease 0.200 None 1.000 2 0 2009 2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
Congenital Generalized Lipodystrophy Type 1
disease 0.930 None 0.857 2 0 2002 2019
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
Spondyloepimetaphyseal Dysplasia, Pakistani Type
disease 0.920 None 1.000 3 0 1969 2015
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.682 0.462 2.0E-10
Spondylodysplasia And Premature Pubarche
disease 0.200 None 1.000 3 0 1969 1998
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
4-hydroxy-2-oxoglutarate aldolase 1 0.792 0.192 1.6E-14
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria
disease 0.610 strong 1.000 1 0 2011 2015
Entrez Id: 112817
Gene Symbol: HOGA1
HOGA1
4-hydroxy-2-oxoglutarate aldolase 1 0.792 0.192 1.6E-14
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria
disease 0.550 strong 1.000 1 0 2010 2019
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
disease 0.940 moderate 1.000 1 0 1972 2012
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group 0.300 None 0.969 2 0 1998 2019
Entrez Id: 3357
Gene Symbol: HTR2B
HTR2B
5-hydroxytryptamine receptor 2B 0.647 0.538 2.7E-10
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease 0.200 None 0 0
Entrez Id: 3357
Gene Symbol: HTR2B
HTR2B
5-hydroxytryptamine receptor 2B 0.647 0.538 2.7E-10
Cardiomyopathy, Hypertrophic, Familial
disease 0.200 None 0 0
Entrez Id: 3358
Gene Symbol: HTR2C
HTR2C
5-hydroxytryptamine receptor 2C 0.555 0.692 3.7E-02
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.230 None 1.000 2 0 1998 2012
Entrez Id: 3358
Gene Symbol: HTR2C
HTR2C
5-hydroxytryptamine receptor 2C 0.555 0.692 3.7E-02
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease 0.260 None 1.000 1 0 2009 2018
Entrez Id: 3360
Gene Symbol: HTR4
HTR4
5-hydroxytryptamine receptor 4 0.610 0.615 2.5E-02
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease 0.200 None 1.000 2 0 2004 2007
Entrez Id: 5209
Gene Symbol: PFKFB3
PFKFB3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 0.561 0.808 0.25
Cardiomyopathy in other diseases classified elsewhere
disease 0.200 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
6-pyruvoyl-tetrahydropterin synthase deficiency
disease 0.900 definitive 1.000 2 0 1987 2017
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 5 0 1987 2018
Entrez Id: 90956
Gene Symbol: ADCK2
ADCK2
aarF domain containing kinase 2 3.6E-07
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.200 None 1.000 1 0 2019 2019
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1837713
Disease: JOUBERT SYNDROME 3
JOUBERT SYNDROME 3
disease 0.900 None 1.000 1 0 1992 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.350 None 1.000 0 0 2006 2011
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
disease 0.970 definitive 0.833 1 0 2010 2019
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
Triglyceride storage disease with ichthyosis
disease 1.000 None 1.000 1 0 1982 2019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.400 None 1.000 0 0 2003 2018
Entrez Id: 55
Gene Symbol: ACP3
ACP3
acid phosphatase 3 0.525 0.731 2.5E-16
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group 0.240 None 1.000 2 0 2004 2018