Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 341208
Gene Symbol: HEPHL1
HEPHL1
Pili torti developmental delay neurological abnormalities
0.300 GeneticVariation UNIPROT Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 31125343

2019

Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
0.300 GeneticVariation UNIPROT LZTR1 is a regulator of RAS ubiquitination and signaling. 30442766

2018

Entrez Id: 85446
Gene Symbol: ZFHX2
ZFHX2
CUI: C4538468
Disease: MARSILI SYNDROME
MARSILI SYNDROME
0.300 GeneticVariation UNIPROT A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. 29253101

2018

Entrez Id: 23646
Gene Symbol: PLD3
PLD3
CUI: C4540404
Disease: SPINOCEREBELLAR ATAXIA 46
SPINOCEREBELLAR ATAXIA 46
0.300 GeneticVariation UNIPROT PLD3 and spinocerebellar ataxia. 30312375

2018

Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14
0.300 GeneticVariation UNIPROT Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. 29044499

2018

Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2
HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY
0.300 GeneticVariation UNIPROT RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 29769720

2018

Entrez Id: 55765
Gene Symbol: INAVA
INAVA
CUI: C4748083
Disease: INFLAMMATORY BOWEL DISEASE 29
INFLAMMATORY BOWEL DISEASE 29
0.300 GeneticVariation UNIPROT C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. 29420262

2018

Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
0.300 GeneticVariation UNIPROT A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. 29784083

2018

Entrez Id: 5137
Gene Symbol: PDE1C
PDE1C
CUI: C4748334
Disease: DEAFNESS, AUTOSOMAL DOMINANT 74
DEAFNESS, AUTOSOMAL DOMINANT 74
0.300 GeneticVariation UNIPROT A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss. 29860631

2018

Entrez Id: 8812
Gene Symbol: CCNK
CCNK
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
0.300 GeneticVariation UNIPROT De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. 30122539

2018

Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C4748626
Disease: OVARIAN DYSGENESIS 8
OVARIAN DYSGENESIS 8
0.300 GeneticVariation UNIPROT Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). 30113650

2018

Entrez Id: 4140
Gene Symbol: MARK3
MARK3
VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
0.300 GeneticVariation UNIPROT Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. 29771303

2018

Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1
Granulocytopenia with Immunoglobulin Abnormality
0.300 GeneticVariation UNIPROT Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. 27913302

2017

Entrez Id: 56893
Gene Symbol: UBQLN4
UBQLN4
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.300 GeneticVariation UNIPROT A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis. 28463112

2017

Entrez Id: 844
Gene Symbol: CASQ1
CASQ1
CUI: C4011726
Disease: MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, TUBULAR AGGREGATE, 1
0.300 GeneticVariation UNIPROT Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy. 28895244

2017

Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
CUI: C4539881
Disease: DEAFNESS, AUTOSOMAL DOMINANT 71
DEAFNESS, AUTOSOMAL DOMINANT 71
0.300 GeneticVariation UNIPROT A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. 27657680

2017

Entrez Id: 80736
Gene Symbol: SLC44A4
SLC44A4
CUI: C4539886
Disease: DEAFNESS, AUTOSOMAL DOMINANT 72
DEAFNESS, AUTOSOMAL DOMINANT 72
0.300 GeneticVariation UNIPROT SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss. 28013291

2017

Entrez Id: 676
Gene Symbol: BRDT
BRDT
CUI: C4539991
Disease: SPERMATOGENIC FAILURE 21
SPERMATOGENIC FAILURE 21
0.300 GeneticVariation UNIPROT Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. 28199965

2017

Entrez Id: 254528
Gene Symbol: MEIOB
MEIOB
CUI: C4540179
Disease: SPERMATOGENIC FAILURE 22
SPERMATOGENIC FAILURE 22
0.300 GeneticVariation UNIPROT A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. 28206990

2017

Entrez Id: 6301
Gene Symbol: SARS1
SARS1
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
0.300 GeneticVariation UNIPROT Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. 28236339

2017

Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
0.300 GeneticVariation UNIPROT A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. 29016863

2017

Entrez Id: 2196
Gene Symbol: FAT2
FAT2
CUI: C4540400
Disease: SPINOCEREBELLAR ATAXIA 45
SPINOCEREBELLAR ATAXIA 45
0.300 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017

Entrez Id: 23646
Gene Symbol: PLD3
PLD3
CUI: C4540404
Disease: SPINOCEREBELLAR ATAXIA 46
SPINOCEREBELLAR ATAXIA 46
0.300 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017

Entrez Id: 9276
Gene Symbol: COPB2
COPB2
MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
0.300 GeneticVariation UNIPROT Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly. 29036432

2017

Entrez Id: 9918
Gene Symbol: NCAPD2
NCAPD2
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
0.300 GeneticVariation UNIPROT Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. 28097321

2017