Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 150 336
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577 59 77
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769 57 70
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846 49 61
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885 44 888
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 44 57
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692 44 42
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769 43 64
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 42 82
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885 41 38
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885 41 32
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 34 55
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692 24 28
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846 21 38
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692 19 116
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654 17 25
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
ST20-MTHFS ST20-MTHFS readthrough 7.6E-03 0.805 0.115 15 2
MTHFS P49914 methenyltetrahydrofolate synthetase Enzyme 2.6E-04 0.678 0.500 15 2
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692 14 147