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: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
RAN binding protein 2 0.578 0.615 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 0.601 0.692 6.1E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
decaprenyl diphosphate synthase subunit 2 0.626 0.577 4.4E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
LMBR1 domain containing 1 0.716 0.385 9.0E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55739
Gene Symbol: NAXD
NAXD
NAD(P)HX dehydratase 0.839 0.231 7.0E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2
replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 60558
Gene Symbol: GUF1
GUF1
GUF1 homolog, GTPase 0.805 0.154 5.3E-18
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3 0.606 0.654 2.6E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
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: 644096
Gene Symbol: SDHAF1
SDHAF1
succinate dehydrogenase complex assembly factor 1 0.656 0.462 8.7E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0