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: 23384
Gene Symbol: SPECC1L
SPECC1L
sperm antigen with calponin homology and coiled-coil domains 1 like 0.611 0.586 0.87
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
3-hydroxyisobutyryl-CoA hydrolase 0.735 0.276 2.9E-13
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
VPS33B, late endosome and lysosome associated 0.681 0.517 9.5E-17
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.547 0.759 8.4E-10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
thiamin pyrophosphokinase 1 0.928 8.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.528 0.690 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII 0.762 0.276 5.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.727 0.414 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
methylmalonic aciduria and homocystinuria, cblD type 0.707 0.345 2.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.834 0.207 0.94
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
HtrA serine peptidase 2 0.582 0.448 3.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
coiled-coil domain containing 22 0.676 0.448 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.762 0.241 1.9E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.727 0.345 2.6E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2 0.465 0.724 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4 0.656 0.448 0.52
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.645 0.345 5.1E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.701 0.310 6.0E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
zinc finger and BTB domain containing 20 0.596 0.621 0.98
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26128
Gene Symbol: KIF1BP
KIF1BP
KIF1 binding protein 0.663 0.483
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13 like 0.656 0.414 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.663 0.517 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD
malonyl-CoA decarboxylase 0.685 0.448 6.1E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3
solute carrier family 35 member A3 0.743 0.241 9.0E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0