Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation CLINVAR

Entrez Id: 57479
Gene Symbol: PRR12
PRR12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR

Entrez Id: 57187
Gene Symbol: THOC2
THOC2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR

Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648

2013
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648

2013
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. 24120487

2013
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR 22q11 deletion syndrome: current perspective. 26056486

2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening. 27617111

2015
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. 15033206

2004
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 20855850

2010