Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 4
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 2
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
T-box transcription factor 2 0.544 0.769 0.99
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 2
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
zinc finger E-box binding homeobox 2 0.471 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 2
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 1896
Gene Symbol: EDA
EDA
ectodysplasin A 0.553 0.808 0.97
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
alpha-L-fucosidase 1 0.623 0.577 2.7E-08
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
mannosidase alpha class 1B member 1 0.606 0.577 1.2E-08
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
H3.3 histone A 0.559 0.692 0.12
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 1