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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.659 0.500 1.1E-08
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 55112
Gene Symbol: WDR60
WDR60
WD repeat domain 60 0.592 0.654 4.3E-12
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
reticulophagy regulator 1 0.623 0.538 6.4E-06
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 0