Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.200 Biomarker MGD Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. 29355479

2018
Entrez Id: 23428
Gene Symbol: SLC7A8
SLC7A8
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 Biomarker MGD Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss. 29355479

2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker MGD NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 29674119

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136

2018
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0220695
Disease: Neurofibromatosis, type 4, of Riccardi
Neurofibromatosis, type 4, of Riccardi 		0.200 Biomarker MGD Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1. 30571760

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C0265747
Disease: Congenital atresia of nasopharynx
Congenital atresia of nasopharynx 		0.200 Biomarker MGD ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. 29601588

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		0.200 Biomarker MGD Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. 30442762

2018
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10
CUI: C0478019
Disease: Other specified congenital malformations of respiratory system
Other specified congenital malformations of respiratory system 		0.200 Biomarker MGD ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. 29601588

2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0520716
Disease: Pallidopontonigral degeneration
Pallidopontonigral degeneration 		0.200 Biomarker MGD TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD. 29556029

2018
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		0.200 Biomarker MGD Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model. 29944857

2018
Entrez Id: 7351
Gene Symbol: UCP2
UCP2
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.200 Biomarker MGD The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice. 29154852

2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		0.200 Biomarker MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136

2018
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920

2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		0.200 Biomarker MGD A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease. 29379136

2018
Entrez Id: 51185
Gene Symbol: CRBN
CRBN
CUI: C1838023
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 		0.200 Biomarker MGD Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway. 29459374

2018