×
Entrez Id:
51633
Gene Symbol:
OTUD6B
OTUD6B
0.110
CausalMutation
disease
CLINVAR
×
Entrez Id:
51633
Gene Symbol:
OTUD6B
OTUD6B
0.110
GeneticVariation
disease
CLINVAR
×
Entrez Id:
57479
Gene Symbol:
PRR12
PRR12
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
57187
Gene Symbol:
THOC2
THOC2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
79583
Gene Symbol:
TMEM231
TMEM231
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
3516
Gene Symbol:
RBPJ
RBPJ
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
4528
Gene Symbol:
MTIF2
MTIF2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
51524
Gene Symbol:
TMEM138
TMEM138
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
9343
Gene Symbol:
EFTUD2
EFTUD2
0.100
CausalMutation
disease
CLINVAR
"""Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."
23239648
2013
×
Entrez Id:
9343
Gene Symbol:
EFTUD2
EFTUD2
0.100
GeneticVariation
disease
CLINVAR
"""Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."
23239648
2013
×
Entrez Id:
686
Gene Symbol:
BTD
BTD
0.100
CausalMutation
disease
CLINVAR
"Biotinidase deficiency: ""if you have to have an inherited metabolic disease, this is the one to have""."
22241090
2012
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
CausalMutation
disease
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
GeneticVariation
disease
CLINVAR
"Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."
11343323
2001
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.100
GeneticVariation
disease
CLINVAR
"Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met."
10764043
2000
×
Entrez Id:
4297
Gene Symbol:
KMT2A
KMT2A
0.100
CausalMutation
disease
CLINVAR
"Hypertrichosis ""cubiti"" with facial asymmetry."
7802037
1994
×
Entrez Id:
2261
Gene Symbol:
FGFR3
FGFR3
0.100
CausalMutation
disease
CLINVAR
"Let's call it ""Crouzonodermoskeletal syndrome"" so we won't be prisoners of our own conventional terminology."
10213050
1999
×
Entrez Id:
64131
Gene Symbol:
XYLT1
XYLT1
0.100
GeneticVariation
disease
CLINVAR
"The missing ""link"": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation."
23982343
2014
×
Entrez Id:
104472715
Gene Symbol:
SNHG14
SNHG14
0.100
CausalMutation
disease
CLINVAR
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
25884337
2015
×
Entrez Id:
7337
Gene Symbol:
UBE3A
UBE3A
0.100
CausalMutation
disease
CLINVAR
15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes.
25884337
2015
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
0.100
GeneticVariation
disease
CLINVAR
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
24120487
2013
×
Entrez Id:
7157
Gene Symbol:
TP53
TP53
0.010
Biomarker
disease
BEFREE
17p13.1 Deletion encompassing TP53 has been described as a syndrome characterized by intellectual disability and dysmorphic features .
24668897
2014
×
Entrez Id:
2186
Gene Symbol:
BPTF
BPTF
0.110
CausalMutation
disease
CLINVAR
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
22166941
2012
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.100
CausalMutation
disease
CLINVAR
22q11 deletion syndrome: current perspective.
26056486
2015
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.100
CausalMutation
disease
CLINVAR
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
27617111
2015
×
Entrez Id:
549
Gene Symbol:
AUH
AUH
0.100
GeneticVariation
disease
CLINVAR
3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
15033206
2004