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: 3039
Gene Symbol: HBA1
HBA1
P69905 hemoglobin subunit alpha 1 200 0.508 0.808 6.7E-03 0.100 None 0 0
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
P69905 hemoglobin subunit alpha 2 182 0.512 0.808 3.1E-03 0.100 None 0 0
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
P01889 major histocompatibility complex, class I, B 706 0.379 0.885 3.9E-05 0.100 None 0 0
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
P43026 growth differentiation factor 5 Signaling 238 0.511 0.692 0.67 0.100 None 0 0
Entrez Id: 3593
Gene Symbol: IL12B
IL12B
P29460 interleukin 12B Signaling 249 0.480 0.885 1.1E-04 0.100 None 0 0
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.100 None 0 0
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 95 0.599 0.654 0.15 0.100 None 0 0
Entrez Id: 383
Gene Symbol: ARG1
ARG1
P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.100 None 0 0
Entrez Id: 412
Gene Symbol: STS
STS
P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.100 None 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.100 None 0 0
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 3034
Gene Symbol: HAL
HAL
P42357 histidine ammonia-lyase 57 0.641 0.538 2.5E-23 0.100 None 0 0
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9
Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 52 0.670 0.577 0.74 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
P01127 platelet derived growth factor subunit B Signaling 301 0.488 0.846 0.77 0.100 None 0 0
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
Q9UMX1 SUFU negative regulator of hedgehog signaling 272 0.493 0.769 1.00 0.100 None 0 0
Entrez Id: 5818
Gene Symbol: NECTIN1
NECTIN1
Q15223 nectin cell adhesion molecule 1 196 0.523 0.808 6.1E-02 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 0
Entrez Id: 7428
Gene Symbol: VHL
VHL
P40337 von Hippel-Lindau tumor suppressor Enzyme 372 0.443 0.846 8.0E-02 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 99 0.619 0.615 0.98 0.100 None 0 0