Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 3931
Gene Symbol: LCAT
LCAT
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency 		1.000 Biomarker CTD_human

Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		1.000 Biomarker CTD_human

Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		1.000 Biomarker CTD_human

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		1.000 Biomarker CTD_human

Entrez Id: 4023
Gene Symbol: LPL
LPL
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		1.000 Biomarker CTD_human

Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis 		1.000 Biomarker CTD_human

Entrez Id: 1629
Gene Symbol: DBT
DBT
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		1.000 Biomarker CTD_human

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		1.000 Biomarker CTD_human

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0025269
Disease: Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia Type 2b 		1.000 Biomarker CTD_human

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II 		1.000 Biomarker CTD_human

Entrez Id: 3930
Gene Symbol: LBR
LBR
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		1.000 Biomarker CTD_human

Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		1.000 Biomarker CTD_human

Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		1.000 Biomarker CTD_human

Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 Biomarker CTD_human

Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		1.000 Biomarker CTD_human

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		1.000 Biomarker CTD_human

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1.000 Biomarker CTD_human

Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0085132
Disease: Mucopolysaccharidosis VII
Mucopolysaccharidosis VII 		1.000 Biomarker CTD_human

Entrez Id: 10804
Gene Symbol: GJB6
GJB6
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		1.000 Biomarker CTD_human

Entrez Id: 7390
Gene Symbol: UROS
UROS
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker CTD_human

Entrez Id: 197131
Gene Symbol: UBR1
UBR1
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome 		1.000 Biomarker CTD_human

Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker CTD_human

Entrez Id: 5077
Gene Symbol: PAX3
PAX3
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		1.000 Biomarker CTD_human

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