×
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
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
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
SPINOCEREBELLAR ATAXIA 46
0.300
GeneticVariation
UNIPROT
PLD3 and spinocerebellar ataxia.
30312375
2018
×
Entrez Id:
2661
Gene Symbol:
GDF9
GDF9
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
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
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
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
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
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
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
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
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
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
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
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