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: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
Q5JTC6 APC membrane recruitment protein 1 134 0.570 0.654 0.85 0.100 None 0 0
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
Q9UHC6 contactin associated protein 2 203 0.530 0.846 2.9E-09 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 1
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.100 None 0 0
Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
Q6VVX0 cytochrome P450 family 2 subfamily R member 1 139 0.563 0.731 3.8E-10 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1
O60762 dolichyl-phosphate mannosyltransferase subunit 1, catalytic Enzyme 57 0.695 0.385 1.6E-04 0.100 None 0 0
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.100 None 0 0
Entrez Id: 2077
Gene Symbol: ERF
ERF
P50548 ETS2 repressor factor Transcription factor 131 0.572 0.654 0.99 0.100 None 0 0
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.100 None 0 2
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1
O15357 inositol polyphosphate phosphatase like 1 133 0.590 0.769 2.3E-03 0.100 None 0 0
Entrez Id: 3832
Gene Symbol: KIF11
KIF11
P52732 kinesin family member 11 Cellular structure 156 0.560 0.769 1.00 0.100 None 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
Q9Y2U8 LEM domain containing 3 112 0.582 0.731 1.00 0.100 None 0 0
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 115 0.606 0.577 1.2E-08 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 55784
Gene Symbol: MCTP2
MCTP2
Q6DN12 multiple C2 and transmembrane domain containing 2 71 0.623 0.577 6.0E-52 0.100 None 0 0
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.100 None 0 0
Entrez Id: 4952
Gene Symbol: OCRL
OCRL
Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 184 0.553 0.731 1.00 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0