Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 Biomarker disease HPO
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		0.100 Biomarker disease HPO
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1 		0.100 Biomarker disease HPO
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.100 Biomarker disease HPO
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.100 Biomarker disease HPO
Entrez Id: 80185
Gene Symbol: TTI2
TTI2 		0.100 Biomarker disease HPO
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 Biomarker disease HPO
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.100 Biomarker disease HPO
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.100 Biomarker disease HPO
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		0.100 Biomarker disease HPO
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.100 Biomarker disease HPO
Entrez Id: 9894
Gene Symbol: TELO2
TELO2 		0.100 Biomarker disease HPO
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3 		0.100 Biomarker disease HPO
Entrez Id: 127833
Gene Symbol: SYT2
SYT2 		0.100 Biomarker disease HPO
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.100 Biomarker disease HPO
Entrez Id: 51684
Gene Symbol: SUFU
SUFU 		0.100 Biomarker disease HPO
Entrez Id: 246329
Gene Symbol: STAC3
STAC3 		0.110 Biomarker disease HPO
Entrez Id: 246329
Gene Symbol: STAC3
STAC3 		0.110 GeneticVariation disease BEFREE Horstick et al.(2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). 28777491 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker disease HPO
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		0.100 Biomarker disease HPO
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 Biomarker disease HPO
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		0.100 Biomarker disease HPO
Entrez Id: 6611
Gene Symbol: SMS
SMS 		0.100 Biomarker disease HPO
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		0.100 Biomarker disease HPO
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.100 Biomarker disease HPO