Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
disease 0.300 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis
disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C1855330
Disease: Cerebral hypoplasia
Cerebral hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis
disease 0.100 None 0 0
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
disease 0.300 None 0 0
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
CUI: C3890030
Disease: PROTEIN S HEERLEN PHENOTYPE
PROTEIN S HEERLEN PHENOTYPE
phenotype 0.100 None 0 1
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group 0.100 None 0 0
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
Abnormality of the cerebral vasculature
disease 0.100 None 0 0
Entrez Id: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate
phenotype 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.760 0.269 0.16
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0151632
Disease: ESR raised
ESR raised
phenotype 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
disease 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies
disease 0.100 None 0 0
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
major histocompatibility complex, class II, DP beta 1 0.453 0.923 5.3E-10
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group 0.100 None 0 0