Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347688
Gene Symbol: TUBB8
TUBB8
CUI: C4227845
Disease: Oocyte arrest at metaphase I
Oocyte arrest at metaphase I
0.100 GeneticVariation CLINVAR Oocyte maturation arrest produced by 32063091

2020

Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.300 Biomarker GENOMICS_ENGLAND Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, and infantile spasms . 32004447

2020

Entrez Id: 253959
Gene Symbol: RALGAPA1
RALGAPA1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. 32004447

2020

Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0086543
Disease: Cataract
Cataract
0.300 Biomarker GENOMICS_ENGLAND We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract. 32004446

2020

Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 32004446

2020

Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.300 Biomarker GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446

2020

Entrez Id: 26007
Gene Symbol: TKFC
TKFC
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446

2020

Entrez Id: 7358
Gene Symbol: UGDH
UGDH
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation CLINVAR Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. 32001716

2020

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
Arteriovenous Malformations, Cerebral
0.430 CausalMutation CLINVAR Somatic mutations in intracranial arteriovenous malformations. 31891627

2019

Entrez Id: 673
Gene Symbol: BRAF
BRAF
Arteriovenous Malformations, Cerebral
0.100 CausalMutation CLINVAR Somatic mutations in intracranial arteriovenous malformations. 31891627

2019

Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020

Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020

Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0426706
Disease: Absent kidney
Absent kidney
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020

Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0426706
Disease: Absent kidney
Absent kidney
0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020

Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker GENOMICS_ENGLAND Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. 31883643

2020

Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
0.300 Biomarker GENOMICS_ENGLAND Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development. 31883643

2020

Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.300 Biomarker GENOMICS_ENGLAND Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. 31883643

2020

Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
0.700 Biomarker GENOMICS_ENGLAND Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 31875549

2019

Entrez Id: 55871
Gene Symbol: CBWD1
CBWD1
CUI: C1968949
Disease: Cakut
Cakut
0.300 Biomarker GENOMICS_ENGLAND Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. 31862704

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0004134
Disease: Ataxia
Ataxia
0.310 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0036572
Disease: Seizures
Seizures
0.310 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.300 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.300 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020

Entrez Id: 9698
Gene Symbol: PUM1
PUM1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.300 Biomarker GENOMICS_ENGLAND PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy. 31859446

2020