Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 6872
Gene Symbol: TAF1
TAF1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.100 CausalMutation CLINVAR