Source: INFERRED

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: 1028
Gene Symbol: CDKN1C
CDKN1C
cyclin dependent kinase inhibitor 1C 0.456 0.846 0.82
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
H19/IGF2 imprinting control region 0.631 0.615
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 1.000 1 1 2008 2008
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
sarcoglycan gamma 0.621 0.615 4.8E-05
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A
VPS33A core subunit of CORVET and HOPS complexes 0.695 0.538 0.18
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5
solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1
PLAG1 like zinc finger 1 0.566 0.769 0.98
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7038
Gene Symbol: TG
TG
thyroglobulin 0.480 0.808 2.9E-59
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7067
Gene Symbol: THRA
THRA
thyroid hormone receptor alpha 0.566 0.769 0.33
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7068
Gene Symbol: THRB
THRB
thyroid hormone receptor beta 0.554 0.769 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 5449
Gene Symbol: POU1F1
POU1F1
POU class 1 homeobox 1 0.548 0.654 4.5E-02
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 54941
Gene Symbol: RNF125
RNF125
ring finger protein 125 0.647 0.654 4.6E-05
CUI: C0024421
Disease: Macroglossia
Macroglossia
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: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0024421
Disease: Macroglossia
Macroglossia
disease 0.100 None 0 0