Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83604
Gene Symbol: TMEM47
TMEM47
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 5859
Gene Symbol: QARS1
QARS1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 26750
Gene Symbol: RPS6KC1
RPS6KC1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 81857
Gene Symbol: MED25
MED25
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 2917
Gene Symbol: GRM7
GRM7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 10916
Gene Symbol: MAGED2
MAGED2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 3799
Gene Symbol: KIF5B
KIF5B
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 4784
Gene Symbol: NFIX
NFIX
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 5147
Gene Symbol: PDE6D
PDE6D
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 80208
Gene Symbol: SPG11
SPG11
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.200 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009