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: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
Q6P1J9 cell division cycle 73 144 0.543 0.615 1.00 0.100 None 0 0
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
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: 5745
Gene Symbol: PTH1R
PTH1R
Q03431 parathyroid hormone 1 receptor G-protein coupled receptor 187 0.544 0.731 0.57 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: 4221
Gene Symbol: MEN1
MEN1
O00255 menin 1 364 0.444 0.808 1.00 0.100 None 0 0
Entrez Id: 29887
Gene Symbol: SNX10
SNX10
Q9Y5X0 sorting nexin 10 83 0.633 0.577 3.4E-10 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.100 None 0 1
Entrez Id: 846
Gene Symbol: CASR
CASR
P41180 calcium sensing receptor G-protein coupled receptor 517 0.410 0.846 4.7E-02 0.100 None 0 0
Entrez Id: 1285
Gene Symbol: COL4A3
COL4A3
Q01955 collagen type IV alpha 3 chain 119 0.552 0.692 1.1E-12 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: 100873065
Gene Symbol: PTCHD1-AS
PTCHD1-AS
PTCHD1 antisense RNA (head to head) 13 0.839 0.308 0.100 None 0 1
Entrez Id: 9247
Gene Symbol: GCM2
GCM2
O75603 glial cells missing transcription factor 2 54 0.647 0.538 9.1E-04 0.100 None 0 0
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 47 0.666 0.423 4.8E-04 0.100 None 0 0
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1
Q13488 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Transporter 146 0.565 0.692 2.4E-13 0.100 None 0 0
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
P05062 aldolase, fructose-bisphosphate B 80 0.623 0.538 7.9E-07 0.100 None 0 0
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
O14788 TNF superfamily member 11 Signaling 327 0.453 0.846 4.9E-03 0.100 None 0 0
Entrez Id: 1175
Gene Symbol: AP2S1
AP2S1
P53680 adaptor related protein complex 2 subunit sigma 1 Transporter 29 0.705 0.346 0.79 0.100 None 0 0
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
P51795 chloride voltage-gated channel 5 Ion channel 101 0.593 0.577 0.99 0.100 None 0 0
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7
P51798 chloride voltage-gated channel 7 Ion channel 135 0.590 0.731 0.27 0.100 None 0 0
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
O75469 nuclear receptor subfamily 1 group I member 2 Nuclear receptor 462 0.418 0.846 7.3E-09 0.300 None 1.000 1 0 2010 2010
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.300 limited 1.000 1 0 2010 2010
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
P11168 solute carrier family 2 member 2 Transporter 123 0.572 0.692 3.4E-08 0.110 None 1.000 1 0 2012 2012
Entrez Id: 9368
Gene Symbol: SLC9A3R1
SLC9A3R1
O14745 SLC9A3 regulator 1 116 0.547 0.577 8.8E-05 0.110 None 1.000 1 0 2018 2018