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: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4
phospholipase C beta 4 0.610 0.731 3.0E-06
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6496
Gene Symbol: SIX3
SIX3
SIX homeobox 3 0.560 0.692 0.95
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 652
Gene Symbol: BMP4
BMP4
bone morphogenetic protein 4 0.422 0.808 0.96
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
tubulin folding cofactor E 0.575 0.692 1.7E-08
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH
sonic hedgehog signaling molecule 0.461 0.846 0.98
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 57822
Gene Symbol: GRHL3
GRHL3
grainyhead like transcription factor 3 0.572 0.692 0.99
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6125
Gene Symbol: RPL5
RPL5
ribosomal protein L5 0.617 0.615 1.00
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
CDP-L-ribitol pyrophosphorylase A 0.566 0.654 2.5E-04
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 7314
Gene Symbol: UBB
UBB
ubiquitin B 0.599 0.615 1.7E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 79068
Gene Symbol: FTO
FTO
FTO alpha-ketoglutarate dependent dioxygenase 0.486 0.885 8.4E-08
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease 0.100 None 0 0