Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.110 Biomarker BEFREE Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size. 26806701

2016
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.110 CausalMutation CLINVAR

Entrez Id: 10735
Gene Symbol: STAG2
STAG2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 23556
Gene Symbol: PIGN
PIGN
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 10082
Gene Symbol: GPC6
GPC6
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 79796
Gene Symbol: ALG9
ALG9
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 4081
Gene Symbol: MAB21L1
MAB21L1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 246329
Gene Symbol: STAC3
STAC3
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 2972
Gene Symbol: BRF1
BRF1
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation CLINVAR

Entrez Id: 1108
Gene Symbol: CHD4
CHD4
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO

Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker HPO