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: 51360
Gene Symbol: MBTPS2
MBTPS2 		membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6309
Gene Symbol: SC5D
SC5D 		sterol-C5-desaturase 0.641 0.577 2.6E-03
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		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: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 641
Gene Symbol: BLM
BLM 		BLM RecQ like helicase 0.535 0.808 1.5E-15
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1 		SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		sphingomyelin phosphodiesterase 1 0.499 0.885 3.9E-10
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6729
Gene Symbol: SRP54
SRP54 		signal recognition particle 54 0.612 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6853
Gene Symbol: SYN1
SYN1 		synapsin I 0.597 0.462 0.99
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		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: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		transcription factor 4 0.464 0.846 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D 		phosphodiesterase 4D 0.519 0.846 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		inositol polyphosphate-5-phosphatase K 0.587 0.654 4.2E-05
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 5283
Gene Symbol: PIGH
PIGH 		phosphatidylinositol glycan anchor biosynthesis class H 0.760 0.231 0.23
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8 		DGCR8 microprocessor complex subunit 0.579 0.731 1.00
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease 0.100 None 0 0