Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 3955
Gene Symbol: LFNG
LFNG
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 84942
Gene Symbol: WDR73
WDR73
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 CausalMutation CLINVAR

Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 Biomarker HPO

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 CausalMutation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1857482
Disease: Slender finger
Slender finger 		0.100 CausalMutation CLINVAR