×
Entrez Id:
64135
Gene Symbol:
IFIH1
IFIH1
Anemia
0.100
CausalMutation
CLINVAR
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
30965144
2020
×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Arthrogryposis
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
Arthrogryposis
0.100
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Arthrogryposis
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
342035
Gene Symbol:
GLDN
GLDN
Arthrogryposis
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
5913
Gene Symbol:
RAPSN
RAPSN
Arthrogryposis
0.100
CausalMutation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
4920
Gene Symbol:
ROR2
ROR2
Arthrogryposis
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
259266
Gene Symbol:
ASPM
ASPM
Arthrogryposis
0.100
GeneticVariation
CLINVAR
The genomic and clinical landscape of fetal akinesia.
31680123
2020
×
Entrez Id:
64135
Gene Symbol:
IFIH1
IFIH1
Hepatosplenomegaly
0.100
CausalMutation
CLINVAR
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
30965144
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Muscle hypotonia
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Ophthalmoplegia
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
64135
Gene Symbol:
IFIH1
IFIH1
Petechiae
0.100
CausalMutation
CLINVAR
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
30965144
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Respiratory Insufficiency
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Seizures
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
64135
Gene Symbol:
IFIH1
IFIH1
Thrombocytopenia
0.100
CausalMutation
CLINVAR
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
30965144
2020
×
Entrez Id:
64135
Gene Symbol:
IFIH1
IFIH1
Premature Birth
0.100
CausalMutation
CLINVAR
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
30965144
2020
CACNA2D1
Uveal melanoma
0.100
GeneticVariation
GWASCAT
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
31626034
2020
×
Entrez Id:
26228
Gene Symbol:
STAP1
STAP1
Uveal melanoma
0.100
GeneticVariation
GWASCAT
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
31626034
2020
×
Entrez Id:
53353
Gene Symbol:
LRP1B
LRP1B
Uveal melanoma
0.100
GeneticVariation
GWASCAT
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
31626034
2020
×
Entrez Id:
4921
Gene Symbol:
DDR2
DDR2
Malignant melanoma of choroid
0.100
GeneticVariation
GWASCAT
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
31626034
2020
×
Entrez Id:
753
Gene Symbol:
LDLRAD4
LDLRAD4
Malignant melanoma of choroid
0.100
GeneticVariation
GWASCAT
Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1.
31626034
2020
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
High density lipoprotein measurement
0.100
GeneticVariation
GWASCAT
Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.
31006500
2020
×
Entrez Id:
22895
Gene Symbol:
RPH3A
RPH3A
High density lipoprotein measurement
0.100
GeneticVariation
GWASCAT
Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.
31006500
2020
×
Entrez Id:
4940
Gene Symbol:
OAS3
OAS3
High density lipoprotein measurement
0.100
GeneticVariation
GWASCAT
Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.
31006500
2020
×
Entrez Id:
7358
Gene Symbol:
UGDH
UGDH
Epileptic encephalopathy
0.100
GeneticVariation
CLINVAR
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
32001716
2020