Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		1.000 CausalMutation CLINVAR

Entrez Id: 3690
Gene Symbol: ITGB3
ITGB3
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		1.000 GeneticVariation CLINVAR

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 CausalMutation CLINVAR

Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		1.000 GeneticVariation CLINVAR

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1.000 CausalMutation CLINVAR

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1.000 GeneticVariation CLINVAR

Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 GeneticVariation CLINVAR

Entrez Id: 1371
Gene Symbol: CPOX
CPOX
CUI: C0162531
Disease: Hereditary Coproporphyria
Hereditary Coproporphyria 		1.000 CausalMutation CLINVAR

Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		1.000 GeneticVariation CLINVAR

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 CausalMutation CLINVAR

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0162678
Disease: Neurofibromatoses
Neurofibromatoses 		1.000 GeneticVariation CLINVAR

Entrez Id: 197131
Gene Symbol: UBR1
UBR1
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 5354
Gene Symbol: PLP1
PLP1
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		1.000 GeneticVariation CLINVAR

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		1.000 GeneticVariation CLINVAR

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		1.000 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1.000 GeneticVariation CLINVAR

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 GeneticVariation CLINVAR

Entrez Id: 1947
Gene Symbol: EFNB1
EFNB1
CUI: C0220767
Disease: Craniofrontonasal dysplasia
Craniofrontonasal dysplasia 		1.000 CausalMutation CLINVAR

Entrez Id: 55630
Gene Symbol: SLC39A4
SLC39A4
CUI: C0221036
Disease: Acrodermatitis enteropathica
Acrodermatitis enteropathica 		1.000 CausalMutation CLINVAR

Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		1.000 GeneticVariation CLINVAR

Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 GeneticVariation CLINVAR