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: 3244
Gene Symbol: HPE1
HPE1
holoprosencephaly 1, alobar 3 0.890 0.115 0.310 None 1.000 1 0 1995 1995
Entrez Id: 4047
Gene Symbol: LSS
LSS
P48449 lanosterol synthase 74 0.606 0.654 1.8E-07 0.010 None < 0.001 1 0 1999 1999
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
O14974 protein phosphatase 1 regulatory subunit 12A 59 0.626 0.615 1.00 0.300 None 1.000 1 0 2020 2020
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 216 0.495 0.731 0.67 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5360
Gene Symbol: PLTP
PLTP
P55058 phospholipid transfer protein 62 0.633 0.654 9.0E-09 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2016 2016
Entrez Id: 55837
Gene Symbol: EAPP
EAPP
Q56P03 E2F associated phosphoprotein 1 1.000 0.115 2.2E-10 0.010 None 1.000 1 0 2005 2005
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7841
Gene Symbol: MOGS
MOGS
Q13724 mannosyl-oligosaccharide glucosidase 64 0.626 0.731 5.8E-11 0.010 None 1.000 1 0 2003 2003
Entrez Id: 79600
Gene Symbol: TCTN1
TCTN1
Q2MV58 tectonic family member 1 82 0.597 0.615 1.1E-15 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79823
Gene Symbol: CAMKMT
CAMKMT
Q7Z624 calmodulin-lysine N-methyltransferase 185 0.510 0.808 1.4E-15 0.010 None 1.000 1 0 2003 2003
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8646
Gene Symbol: CHRD
CHRD
Q9H2X0 chordin 18 0.760 0.346 3.8E-05 0.010 None 1.000 1 0 2010 2010
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 2003 2003
Entrez Id: 90226
Gene Symbol: UCN2
UCN2
Q96RP3 urocortin 2 56 0.633 0.577 3.8E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 91653
Gene Symbol: BOC
BOC
Q9BWV1 BOC cell adhesion associated, oncogene regulated 33 0.666 0.423 1.7E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
Q562E7 WD repeat domain 81 67 0.670 0.462 6.7E-08 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2
O43364 homeobox A2 26 0.700 0.385 0.20 0.100 None 0 0
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.100 None 0 0