Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 268 0.462 0.846 0.040 None 1.000 4 0 2018 2020
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
chromosome 20 open reading frame 181 246 0.479 0.885 0.010 None 1.000 1 0 2017 2017
Entrez Id: 171221
Gene Symbol: DNAJB1P1
DNAJB1P1
DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1 51 0.650 0.654 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3041
Gene Symbol: HBAP1
HBAP1
hemoglobin subunit alpha pseudogene 1 2 1.000 0.077 0.010 None 1.000 1 0 2018 2018
Entrez Id: 406947
Gene Symbol: MIR155
MIR155
microRNA 155 584 0.384 0.885 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5953
Gene Symbol: RCD1
RCD1
retinal cone dystrophy 1 2 1.000 0.115 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7971
Gene Symbol: GHS
GHS
Goldenhar syndrome 49 0.659 0.615 0.010 None 1.000 1 0 2017 2017
Entrez Id: 84941
Gene Symbol: HSH2D
HSH2D
Q96JZ2 hematopoietic SH2 domain containing 23 0.722 0.462 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8847
Gene Symbol: DLEU2
DLEU2
deleted in lymphocytic leukemia 2 51 0.650 0.500 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3507
Gene Symbol: IGHM
IGHM
P01871 immunoglobulin heavy constant mu 59 0.644 0.654 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.100 None 1.000 10 0 1999 2019
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
Q9NRD8 dual oxidase 2 Enzyme 150 0.533 0.769 4.5E-56 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.100 None 0 0
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
Q16787 laminin subunit alpha 3 Enzyme modulator 110 0.576 0.731 8.8E-46 0.100 None 0 0
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.020 None 1.000 2 0 2018 2019
Entrez Id: 11005
Gene Symbol: SPINK5
SPINK5
Q9NQ38 serine peptidase inhibitor Kazal type 5 Enzyme modulator 93 0.604 0.654 4.8E-28 0.110 None 1.000 1 0 2005 2005
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
Q4G176 acyl-CoA synthetase family member 3 Enzyme 35 0.743 0.308 2.3E-26 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1
Q07973 cytochrome P450 family 24 subfamily A member 1 Enzyme 171 0.518 0.692 3.2E-23 0.100 None 0 0
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
Q9ULV0 myosin VB Cellular structure 60 0.641 0.731 3.4E-23 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
P51801 chloride voltage-gated channel Kb Ion channel 139 0.593 0.692 1.4E-22 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 1 2014 2014