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: 7055
Gene Symbol: THAS
THAS
thoracoabdominal syndrome 120 0.560 0.808 0.020 None 1.000 2 0 2018 2019
Entrez Id: 10674
Gene Symbol: DURS1
DURS1
Duane retraction syndrome 1 8 0.839 0.154 0.010 None 1.000 1 0 2019 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.010 None 1.000 1 0 2018 2018
Entrez Id: 406959
Gene Symbol: MIR183
MIR183
microRNA 183 190 0.494 0.885 0.010 None 1.000 1 0 2013 2013
Entrez Id: 407053
Gene Symbol: MIR96
MIR96
microRNA 96 134 0.536 0.769 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5640
Gene Symbol: PRS
PRS
Prieto X-linked mental retardation syndrome 42 0.663 0.615 0.010 None 1.000 1 0 2019 2019
Entrez Id: 574453
Gene Symbol: MIR495
MIR495
microRNA 495 87 0.573 0.654 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57733
Gene Symbol: GBA3
GBA3
Q9H227 glucosylceramidase beta 3 (gene/pseudogene) Enzyme 35 0.705 0.538 0.300 None 1.000 1 0 2010 2010
Entrez Id: 7971
Gene Symbol: GHS
GHS
Goldenhar syndrome 49 0.659 0.615 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8213
Gene Symbol: BAS
BAS
Beta-adrenergic stimulation, response to 29 0.711 0.346 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9914
Gene Symbol: ATP2C2
ATP2C2
O75185 ATPase secretory pathway Ca2+ transporting 2 Transporter 18 0.769 0.308 5.0E-60 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.300 None 1.000 1 0 2010 2010
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.300 None 1.000 1 0 2010 2010
Entrez Id: 10207
Gene Symbol: PATJ
PATJ
Q8NI35 PATJ crumbs cell polarity complex component 33 0.751 0.538 1.2E-50 0.300 None 1.000 1 0 2010 2010
Entrez Id: 55930
Gene Symbol: MYO5C
MYO5C
Q9NQX4 myosin VC Cellular structure 15 0.805 0.231 7.8E-37 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9557
Gene Symbol: CHD1L
CHD1L
Q86WJ1 chromodomain helicase DNA binding protein 1 like 64 0.631 0.577 1.0E-36 0.300 None 1.000 1 0 2010 2010
Entrez Id: 22925
Gene Symbol: PLA2R1
PLA2R1
Q13018 phospholipase A2 receptor 1 59 0.633 0.577 3.2E-30 0.300 None 1.000 1 0 2010 2010
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B
Q7Z4L5 tetratricopeptide repeat domain 21B 76 0.619 0.654 2.7E-26 0.300 None 1.000 1 0 2010 2010
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6
P10635 cytochrome P450 family 2 subfamily D member 6 432 0.437 0.885 1.1E-25 0.300 None 1.000 1 0 2006 2006
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.300 None 1.000 1 0 2010 2010
Entrez Id: 3645
Gene Symbol: INSRR
INSRR
P14616 insulin receptor related receptor Kinase 186 0.508 0.808 5.4E-24 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3034
Gene Symbol: HAL
HAL
P42357 histidine ammonia-lyase 57 0.641 0.538 2.5E-23 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79632
Gene Symbol: FAM184A
FAM184A
Q8NB25 family with sequence similarity 184 member A 14 0.821 0.115 1.1E-21 0.300 None 1.000 1 0 2010 2010
Entrez Id: 55198
Gene Symbol: APPL2
APPL2
Q8NEU8 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 36 0.700 0.423 1.2E-18 0.300 None 1.000 1 0 2010 2010