Source: HPO

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: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.727 0.207 1.4E-04
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
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: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2 0.465 0.724 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.762 0.241 1.9E-07
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
coiled-coil domain containing 22 0.676 0.448 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27445
Gene Symbol: PCLO
PCLO
piccolo presynaptic cytomatrix protein 0.656 0.448 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
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: C1864897
Disease: Cognitive delay
Cognitive delay
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: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
NFU1 iron-sulfur cluster scaffold 0.762 0.241 5.1E-06
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
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: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27229
Gene Symbol: TUBGCP4
TUBGCP4
tubulin gamma complex associated protein 4 0.713 0.345 4.5E-09
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27130
Gene Symbol: INVS
INVS
inversin 0.633 0.448 1.0E-17
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
AF4/FMR2 family member 4 0.659 0.655 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
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: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.681 0.448 1.2E-05
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.621 0.517 1.00
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.701 0.276 2.6E-07
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 51025
Gene Symbol: PAM16
PAM16
presequence translocase associated motor 16 0.752 0.379 0.25
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
exosome component 3 0.656 0.448 1.4E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 51002
Gene Symbol: TPRKB
TPRKB
TP53RK binding protein 0.762 0.241 7.4E-03
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.690 0.552 1.6E-15
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
NAD(P) dependent steroid dehydrogenase-like 0.667 0.483 0.97
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
dual oxidase 2 0.598 0.690 2.6E-56
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1
phosphoserine aminotransferase 1 0.565 0.621 8.0E-09
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
protein O-mannosyltransferase 2 0.558 0.552 1.4E-11
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0