PRMT7, protein arginine methyltransferase 7, 54496

N. diseases: 65; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149170494
rs149170494
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 GeneticVariation UNIPROT
dbSNP: rs149170494
rs149170494
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		C 0.800 CausalMutation CLINVAR
dbSNP: rs751670999
rs751670999
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		C 0.800 CausalMutation CLINVAR
dbSNP: rs751670999
rs751670999
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 GeneticVariation UNIPROT Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
dbSNP: rs762515973
rs762515973
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		0.800 GeneticVariation UNIPROT Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
dbSNP: rs762515973
rs762515973
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C2711227
Disease:
Steatohepatitis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0036857
Disease:
Severe intellectual disability 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0000889
Disease:
Acanthosis Nigricans 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0085271
Disease:
Self-Injurious Behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0221357
Disease:
Brachydactyly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0021655
Disease:
Insulin Resistance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0028754
Disease:
Obesity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0424503
Disease:
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C4310689
Disease:
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0349588
Disease:
Short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0266295
Disease:
Congenital hypoplasia of kidney 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C1837084
Disease:
Short metacarpal 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0262444
Disease:
Abnormality of the dentition 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0428465
Disease:
Serum lipids high (finding) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1014959895
rs1014959895
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C1184923
Disease:
Lumbar hyperlordosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1111571
rs1111571
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
dbSNP: rs1111571
rs1111571
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. 28452372 2017
dbSNP: rs1251713297
rs1251713297
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0028754
Disease:
Obesity 		A 0.700 CausalMutation CLINVAR