Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 25839
Gene Symbol: COG4
COG4
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 GeneticVariation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation
0.100 CausalMutation CLINVAR