Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 CausalMutation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.900 GeneticVariation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 CausalMutation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		0.720 GeneticVariation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.200 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.180 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.180 GeneticVariation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.120 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0013592
Disease: Ectropion
Ectropion 		0.110 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0013592
Disease: Ectropion
Ectropion 		0.110 GeneticVariation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0017086
Disease: Gangrene
Gangrene 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 GeneticVariation CLINVAR

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0022568
Disease: Keratitis
Keratitis 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker HPO