Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2
adhesion G protein-coupled receptor B2 0.890 0.192 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 54834
Gene Symbol: GDAP2
GDAP2
ganglioside induced differentiation associated protein 2 0.839 0.154 1.5E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY
ATCAY kinesin light chain interacting caytaxin 0.805 0.192 0.62
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 267010
Gene Symbol: RNU12
RNU12
RNA, U12 small nuclear 0.792 0.346
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 85015
Gene Symbol: USP45
USP45
ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 23769
Gene Symbol: FLRT1
FLRT1
fibronectin leucine rich transmembrane protein 1 0.780 0.231 0.36
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
vacuolar protein sorting 13 homolog D 0.769 0.346 1.1E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 79803
Gene Symbol: HPS6
HPS6
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 0.769 0.308 2.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 84343
Gene Symbol: HPS3
HPS3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 0.769 0.308 2.9E-21
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 85021
Gene Symbol: REPS1
REPS1
RALBP1 associated Eps domain containing 1 0.769 0.269 0.99
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1
DIMT1 rRNA methyltransferase and ribosome maturation factor 0.760 0.385 3.9E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 1
Entrez Id: 283652
Gene Symbol: SLC24A5
SLC24A5
solute carrier family 24 member 5 0.760 0.308 5.2E-10
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240
transmembrane protein 240 0.760 0.231 0.23
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B
trafficking protein particle complex 6B 0.751 0.308 1.5E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
metabolism of cobalamin associated D 0.751 0.385 2.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 51501
Gene Symbol: HIKESHI
HIKESHI
heat shock protein nuclear import factor hikeshi 0.751 0.385 0.52
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2
mab-21 like 2 0.743 0.308 0.44
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2
iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
NAD(P)HX epimerase 0.743 0.346 2.4E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 146167
Gene Symbol: SLC38A8
SLC38A8
solute carrier family 38 member 8 0.743 0.269 3.3E-24
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 None 1.000 0 0 2014 2014
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
molybdenum cofactor synthesis 1 0.743 0.231 9.1E-07
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8
ataxin 8 0.743 0.269
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0