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: 6718
Gene Symbol: AKR1D1
AKR1D1
aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0009806
Disease: Constipation
Constipation
phenotype 0.100 None 0 0
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.100 None 0 0
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease 0.300 strong 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0020505
Disease: Hyperphagia
Hyperphagia
phenotype 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0020490
Disease: Hyperopia
Hyperopia
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0014877
Disease: Esotropia
Esotropia
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 80342
Gene Symbol: TRAF3IP3
TRAF3IP3
TRAF3 interacting protein 3 0.839 0.192 2.2E-12
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease 0.100 None 0 0
Entrez Id: 80345
Gene Symbol: ZSCAN16
ZSCAN16
zinc finger and SCAN domain containing 16 1.000 0.077 2.1E-07
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 1
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
disease 0.100 None 0 0
Entrez Id: 148867
Gene Symbol: SLC30A7
SLC30A7
solute carrier family 30 member 7 0.792 0.385 4.4E-07
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1
disease 0.100 None 0 1
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
aldo-keto reductase family 1 member D1 0.711 0.385 1.7E-07
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.100 None 0 0