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: 2464
Gene Symbol: FRA16E
FRA16E
fragile site, distamycin A type, rare, fra(16)(p12.1) 0.857 0.172
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 3653
Gene Symbol: IPW
IPW
imprinted in Prader-Willi syndrome 0.707 0.276
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.596 0.483
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4570
Gene Symbol: TRNN
TRNN
tRNA 0.713 0.448
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.584 0.586
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.514 0.655
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 7353
Gene Symbol: UFD1
UFD1
ubiquitin recognition factor in ER associated degradation 1 0.630 0.552
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2
nuclear receptor binding SET domain protein 2 0.558 0.690
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
LARGE xylosyl- and glucuronyltransferase 1 0.530 0.621
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.667 0.414
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
WASH complex subunit 5 0.602 0.621
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1
MKRN3 antisense RNA 1 0.707 0.276
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
ribitol xylosyltransferase 1 0.633 0.414
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
beta-1,4-glucuronyltransferase 1 0.573 0.414
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 11212
Gene Symbol: PLPBP
PLPBP
pyridoxal phosphate binding protein 0.773 0.207
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.645 0.586
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23325
Gene Symbol: WASHC4
WASHC4
WASH complex subunit 4 0.815 0.241
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1
nuclear pore associated protein 1 0.696 0.345
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 26128
Gene Symbol: KIF1BP
KIF1BP
KIF1 binding protein 0.663 0.483
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 51501
Gene Symbol: HIKESHI
HIKESHI
Hikeshi, heat shock protein nuclear import factor 0.799 0.241
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
lines homolog 1 0.799 0.207
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.567 0.517
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 0.696 0.414
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
kinetochore scaffold 1 0.696 0.414
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0
Entrez Id: 64175
Gene Symbol: P3H1
P3H1
prolyl 3-hydroxylase 1 0.727 0.241
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype 0.100 0 0