Source: CLINVAR ×
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: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
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: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 153 0.385 0.923 1.00 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
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: 4361
Gene Symbol: MRE11
MRE11
P49959 MRE11 homolog, double strand break repair nuclease 21 0.527 0.808 1.3E-12 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 51 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 63 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
Q9UHX1 poly(U) binding splicing factor 60 37 0.536 0.769 1.00 0.100 None 0 2
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 19 0.619 0.692 0.91 0.100 None 0 1
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
Q8NFW5 diencephalon/mesencephalon homeobox 1 6 0.780 0.115 0.93 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED
O75530 embryonic ectoderm development 18 0.588 0.615 1.00 0.100 None 0 1