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: 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: 9512
Gene Symbol: PMPCB
PMPCB
peptidase, mitochondrial processing subunit beta 0.769 0.192 4.5E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
bolA family member 3 0.760 0.231 0.15
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 55217
Gene Symbol: TMLHE
TMLHE
trimethyllysine hydroxylase, epsilon 0.821 0.231 8.0E-05
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: 81689
Gene Symbol: ISCA1
ISCA1
iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3
canopy FGF signaling regulator 3 0.805 0.269 0.40
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 284439
Gene Symbol: SLC25A42
SLC25A42
solute carrier family 25 member 42 0.760 0.269 0.49
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 51693
Gene Symbol: TRAPPC2L
TRAPPC2L
trafficking protein particle complex 2 like 0.805 0.269 3.7E-11
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
syntaxin 1B 0.650 0.308 0.99
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 343450
Gene Symbol: KCNT2
KCNT2
potassium sodium-activated channel subfamily T member 2 0.711 0.308 4.2E-02
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: 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: 128240
Gene Symbol: NAXE
NAXE
NAD(P)HX epimerase 0.743 0.346 2.4E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1
ETHE1 persulfide dioxygenase 0.686 0.346 4.6E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
NECAP endocytosis associated 1 0.691 0.346 0.13
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 65993
Gene Symbol: MRPS34
MRPS34
mitochondrial ribosomal protein S34 0.722 0.346 2.6E-03
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: 8891
Gene Symbol: EIF2B3
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma 0.729 0.346 0.57
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 90624
Gene Symbol: LYRM7
LYRM7
LYR motif containing 7 0.716 0.346 2.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 10463
Gene Symbol: SLC30A9
SLC30A9
solute carrier family 30 member 9 0.736 0.385 4.7E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0