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: 23299
Gene Symbol: BICD2
BICD2
Q8TD16 BICD cargo adaptor 2 28 0.615 0.731 0.98 0.400 strong 1.000 0 1 2018 2018
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
O75844 zinc metallopeptidase STE24 Enzyme 31 0.517 0.731 8.9E-16 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 54 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
Q93009 ubiquitin specific peptidase 7 Enzyme 34 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
Q13207 T-box transcription factor 2 Transcription factor 36 0.544 0.769 0.99 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 43 0.535 0.769 1.4E-17 0.100 None 0 2
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 46 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 16 0.573 0.731 1.00 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 46 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 60 0.420 0.885 0.68 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 54 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 54 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.100 None 0 1