Source: HPO

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: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0266631
Disease: Accessory spleen
Accessory spleen 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C4023916
Disease: Aplasia/Hypoplasia of the tongue
Aplasia/Hypoplasia of the tongue 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		MKS transition zone complex subunit 1 0.505 0.769 3.4E-16
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0