Source: UNIPROT

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: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
disease 0.700 None 1.000 2 2 1998 2016
Entrez Id: 85007
Gene Symbol: PHYKPL
PHYKPL
5-phosphohydroxy-L-lysine phospho-lyase 0.890 0.192 4.8E-14
CUI: C3554344
Disease: Phosphohydroxylysinuria
Phosphohydroxylysinuria
disease 0.620 limited 1.000 1 2 2012 2016
Entrez Id: 5210
Gene Symbol: PFKFB4
PFKFB4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 0.666 0.346 2.1E-09
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.350 None 1.000 0 0 2014 2019
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 12 20 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 9 37 1987 2018
Entrez Id: 9590
Gene Symbol: AKAP12
AKAP12
A-kinase anchoring protein 12 0.566 0.615 3.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.360 None 1.000 0 1 2008 2018
Entrez Id: 10566
Gene Symbol: AKAP3
AKAP3
A-kinase anchoring protein 3 0.736 0.269 5.6E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 1
Entrez Id: 9472
Gene Symbol: AKAP6
AKAP6
A-kinase anchoring protein 6 0.695 0.538 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 None 0 0
Entrez Id: 9472
Gene Symbol: AKAP6
AKAP6
A-kinase anchoring protein 6 0.695 0.538 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.300 None 0 1
Entrez Id: 10270
Gene Symbol: AKAP8
AKAP8
A-kinase anchoring protein 8 0.751 0.308 0.66
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.310 None 1.000 0 0 2017 2017
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11
disease 0.700 limited 1.000 1 1 2002 2014
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.330 None 1.000 0 1 2008 2017
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
A-kinase anchoring protein 9 0.638 0.385 4.5E-17
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.340 None 1.000 0 0 2006 2016
Entrez Id: 369
Gene Symbol: ARAF
ARAF
A-Raf proto-oncogene, serine/threonine kinase 0.619 0.654 0.96
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
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 6 6 1992 2017
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 7 3 2010 2019
Entrez Id: 145447
Gene Symbol: ABHD12B
ABHD12B
abhydrolase domain containing 12B 0.931 0.115 3.8E-15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.300 None 0 1
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 4 3 1982 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
disease 0.600 None 1.000 1 2 2017 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0025202
Disease: melanoma
melanoma
disease 0.310 None 1.000 0 0 2015 2015
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung
disease 0.300 None 0 0
Entrez Id: 84142
Gene Symbol: ABRAXAS1
ABRAXAS1
abraxas 1, BRCA1 A complex subunit 0.760 0.269 5.1E-07
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.350 None 0.714 2 1 2009 2019
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
disease 0.700 None 1.000 1 1 2014 2014
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
Deficiency of acetyl-CoA acetyltransferase
disease 0.800 definitive 1.000 4 10 1979 2019
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease 0.320 None 1.000 0 1 2017 2020