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: 284111
Gene Symbol: SLC13A5
SLC13A5
Q86YT5 solute carrier family 13 member 5 Transporter 106 0.608 0.577 5.1E-04 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: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 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: 4621
Gene Symbol: MYH3
MYH3
P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.100 None 0 0
Entrez Id: 4771
Gene Symbol: NF2
NF2
P35240 neurofibromin 2 312 0.468 0.885 1.00 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
P15863 paired box 1 89 0.593 0.654 0.70 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.100 None 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 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: 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: 2895
Gene Symbol: GRID2
GRID2
O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 50 0.670 0.500 1.00 0.100 None 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
O60826 coiled-coil domain containing 22 99 0.595 0.692 1.00 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: 3034
Gene Symbol: HAL
HAL
P42357 histidine ammonia-lyase 57 0.641 0.538 2.5E-23 0.100 None 0 0
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