Source: HPO

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: 4081
Gene Symbol: MAB21L1
MAB21L1
mab-21 like 1 0.736 0.192 0.29
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
molybdenum cofactor synthesis 1 0.743 0.231 9.1E-07
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 8812
Gene Symbol: CCNK
CCNK
cyclin K 0.792 0.231 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 1.000 0 0 2019 2019
Entrez Id: 388662
Gene Symbol: SLC6A17
SLC6A17
solute carrier family 6 member 17 0.780 0.308 0.50
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
molybdenum cofactor synthesis 2 0.729 0.308 4.6E-04
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
ADAMTS like 2 0.666 0.346 1.6E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.678 0.385 0.98
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 28981
Gene Symbol: IFT81
IFT81
intraflagellar transport 81 0.700 0.385 9.1E-12
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
zinc finger protein 81 0.705 0.385 0.55
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
chromosome X open reading frame 56 0.705 0.385 0.95
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41
zinc finger protein 41 0.711 0.385 3.5E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 10484
Gene Symbol: SEC23A
SEC23A
Sec23 homolog A, COPII coat complex component 0.659 0.423 1.1E-11
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 22854
Gene Symbol: NTNG1
NTNG1
netrin G1 0.650 0.423 0.92
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
zinc finger protein 711 0.691 0.423 0.98
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 84188
Gene Symbol: FAR1
FAR1
fatty acyl-CoA reductase 1 0.751 0.423 0.99
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
FERM and PDZ domain containing 4 0.674 0.423 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2
ripply transcriptional repressor 2 0.650 0.462 9.4E-03
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype 0.100 None 0 0