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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1
alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
alkaline ceramidase 3 0.743 0.423 0.87
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.610 0.731 6.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
ADP-ribosylserine hydrolase 0.743 0.308 5.8E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 191
Gene Symbol: AHCY
AHCY
adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 23229
Gene Symbol: ARHGEF9
ARHGEF9
Cdc42 guanine nucleotide exchange factor 9 0.691 0.385 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.691 0.423 3.6E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 443
Gene Symbol: ASPA
ASPA
aspartoacylase 0.564 0.731 4.1E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B
bromodomain adjacent to zinc finger domain 1B 0.530 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0