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: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
Abnormality of metabolism/homeostasis
phenotype 0.300 None 1.000 1 0 2018 2018
Entrez Id: 5925
Gene Symbol: RB1
RB1
RB transcriptional corepressor 1 0.444 0.885 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 55640
Gene Symbol: FLVCR2
FLVCR2
FLVCR heme transporter 2 0.736 0.346 3.4E-06
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1
solute carrier family 35 member C1 0.705 0.577 2.4E-02
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 54476
Gene Symbol: RNF216
RNF216
ring finger protein 216 0.670 0.615 2.3E-06
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 55806
Gene Symbol: HR
HR
HR lysine demethylase and nuclear receptor corepressor 0.722 0.192 7.4E-10
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 56159
Gene Symbol: TEX11
TEX11
testis expressed 11 0.686 0.500 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 57522
Gene Symbol: SRGAP1
SRGAP1
SLIT-ROBO Rho GTPase activating protein 1 0.686 0.500 1.00
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107
nucleoporin 107 0.595 0.500 2.6E-09
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
proline dehydrogenase 1 0.612 0.692 5.4E-12
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5447
Gene Symbol: POR
POR
cytochrome p450 oxidoreductase 0.502 0.769 3.4E-10
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
reticulophagy regulator 1 0.623 0.538 6.4E-06
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5191
Gene Symbol: PEX7
PEX7
peroxisomal biogenesis factor 7 0.603 0.615 8.2E-13
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
Abnormality of metabolism/homeostasis
phenotype 0.100 None 0 0