Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 84148
Gene Symbol: KAT8
KAT8
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.300 Biomarker GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431

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: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

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: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119

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: 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: 7360
Gene Symbol: UGP2
UGP2
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119

2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.300 Biomarker GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431

2020
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities 		0.300 Biomarker GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431

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: 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: 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: 7360
Gene Symbol: UGP2
UGP2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119

2020
Entrez Id: 84148
Gene Symbol: KAT8
KAT8
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431

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