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: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.720 0.414 0.98
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L
LAS1 like, ribosome biogenesis factor 0.696 0.552 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.577 0.690 6.3E-57
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.609 0.621 3.1E-14
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 1808
Gene Symbol: DPYSL2
DPYSL2
dihydropyrimidinase like 2 0.630 0.517 0.99
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
nuclear factor I X 0.588 0.621 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.648 0.379 7.4E-07
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
fatty acid 2-hydroxylase 0.633 0.517 0.13
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
NADH:ubiquinone oxidoreductase subunit B3 0.663 0.552 1.5E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.611 0.552 8.6E-07
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
NADH:ubiquinone oxidoreductase subunit A1 0.630 0.414 0.56
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 84033
Gene Symbol: OBSCN
OBSCN
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0.799 0.310 7.9E-156
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.582 0.552 3.5E-04
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.639 0.586 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
ATP binding cassette subfamily A member 5 0.773 0.276 1.3E-24
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1
FtsJ RNA methyltransferase homolog 1 0.727 0.345 0.99
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.387 0.862 1.00
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.627 0.448 5.1E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 25906
Gene Symbol: ANAPC15
ANAPC15
anaphase promoting complex subunit 15 0.29
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 5337
Gene Symbol: PLD1
PLD1
phospholipase D1 0.607 0.552 5.1E-21
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
zinc finger and BTB domain containing 20 0.596 0.621 0.98
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
nephrocystin 3 0.604 0.414 1.2E-15
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B
ubiquitin protein ligase E3B 0.624 0.552 1.2E-07
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.590 0.552 0.96
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 1
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5 0.645 0.379 5.3E-10
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group 0.100 0 2