Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 Biomarker CTD_human

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 CausalMutation CLINVAR

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 Biomarker CTD_human

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 SomaticCausalMutation ORPHANET

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 CausalMutation CGI

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 SomaticCausalMutation ORPHANET

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
1.000 CausalMutation CGI

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 Biomarker CTD_human

Entrez Id: 3081
Gene Symbol: HGD
HGD
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0003076
Disease: Aniridia
Aniridia
1.000 Biomarker HPO

Entrez Id: 472
Gene Symbol: ATM
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 CausalMutation CGI

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 Biomarker CTD_human

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 FusionGene ORPHANET

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 GenomicAlterations CGI

Entrez Id: 4609
Gene Symbol: MYC
MYC
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
1.000 Biomarker HPO

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 Biomarker CTD_human

Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
1.000 Biomarker CTD_human

Entrez Id: 1130
Gene Symbol: LYST
LYST
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome
1.000 GermlineCausalMutation ORPHANET