Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		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: C1384666
Disease: hearing impairment
hearing impairment 		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: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
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: 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: 7360
Gene Symbol: UGP2
UGP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.300 Biomarker GENOMICS_ENGLAND Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 31794431

2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		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: 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
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		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: C4025871
Disease: Abnormality of the face
Abnormality of the face 		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: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.300 Biomarker GENOMICS_ENGLAND Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 31794024

2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650

2020
Entrez Id: 200373
Gene Symbol: CFAP221
CFAP221
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation ORPHANET Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. 31636325

2020
Entrez Id: 79925
Gene Symbol: SPEF2
SPEF2
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.300 GermlineCausalMutation ORPHANET SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics. 31545650

2020
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
CUI: C4692652
Disease: MENTAL RETARDATION, X-LINKED 107
MENTAL RETARDATION, X-LINKED 107 		0.300 Biomarker GENOMICS_ENGLAND Novel clinical and genetic insight into CXorf56-associated intellectual disability. 31822863

2020
Entrez Id: 7922
Gene Symbol: SLC39A7
SLC39A7
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		0.300 Biomarker GENOMICS_ENGLAND An essential role for the Zn2+ transporter ZIP7 in B cell development. 30718914

2019
Entrez Id: 23500
Gene Symbol: DAAM2
DAAM2
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker CTD_human An atlas of genetic influences on osteoporosis in humans and mice. 30598549

2019
Entrez Id: 5741
Gene Symbol: PTH
PTH
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Therapeutic CTD_human Combined treatment with vitamin K2 and PTH enhanced bone formation in ovariectomized rats and increased differentiation of osteoblast in vitro. 30639440

2019
Entrez Id: 387
Gene Symbol: RHOA
RHOA
CUI: C0002170
Disease: Alopecia
Alopecia 		0.300 Biomarker CTD_human Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. 31570889

2019
Entrez Id: 9510
Gene Symbol: ADAMTS1
ADAMTS1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 Biomarker CTD_human Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. 30820047

2019
Entrez Id: 43
Gene Symbol: ACHE
ACHE
CUI: C0002871
Disease: Anemia
Anemia 		0.300 Biomarker CTD_human ACHE knock-out mice were found to suffer normocytic anemia. 31170385

2019
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.300 Biomarker CTD_human Combined iron chelator with N-acetylcysteine exerts the greatest effect on improving cardiac calcium homeostasis in iron-overloaded thalassemic mice. 31542421

2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
CUI: C0004134
Disease: Ataxia
Ataxia 		0.300 Biomarker GENOMICS_ENGLAND A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773

2019