Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
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: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation CLINVAR

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

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker HPO

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
1.000 Biomarker HPO

Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus
1.000 GeneticVariation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
1.000 CausalMutation CLINVAR

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation CLINVAR

Entrez Id: 175
Gene Symbol: AGA
AGA
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
1.000 Biomarker HPO

Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
1.000 Biomarker HPO

Entrez Id: 2690
Gene Symbol: GHR
GHR
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome
1.000 GeneticVariation CLINVAR

Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
1.000 Biomarker HPO

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy
1.000 Biomarker HPO

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 GeneticVariation CLINVAR

Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
1.000 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
1.000 Biomarker HPO

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease
1.000 Biomarker HPO

Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
Leukocyte adhesion deficiency type 1
1.000 CausalMutation CLINVAR

Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
Leukocyte adhesion deficiency type 1
1.000 GeneticVariation CLINVAR

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
1.000 GeneticVariation CLINVAR

Entrez Id: 551
Gene Symbol: AVP
AVP
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus
1.000 Biomarker HPO

Entrez Id: 4541
Gene Symbol: ND6
ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
1.000 Biomarker HPO