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: 100128927
Gene Symbol: ZBTB42
ZBTB42
zinc finger and BTB domain containing 42 0.931 0.115 0.34
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 11133
Gene Symbol: KPTN
KPTN
kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 4337
Gene Symbol: MOCS1
MOCS1
molybdenum cofactor synthesis 1 0.743 0.231 9.1E-07
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 8812
Gene Symbol: CCNK
CCNK
cyclin K 0.792 0.231 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4338
Gene Symbol: MOCS2
MOCS2
molybdenum cofactor synthesis 2 0.729 0.308 4.6E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 10283
Gene Symbol: CWC27
CWC27
CWC27 spliceosome associated cyclophilin 0.722 0.346 4.6E-07
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 23729
Gene Symbol: SHPK
SHPK
sedoheptulokinase 0.743 0.346 1.0E-16
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma 0.729 0.346 0.57
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.678 0.385 0.98
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 23169
Gene Symbol: SLC35D1
SLC35D1
solute carrier family 35 member D1 0.736 0.385 3.6E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 2639
Gene Symbol: GCDH
GCDH
glutaryl-CoA dehydrogenase 0.691 0.385 4.9E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 3008
Gene Symbol: H1-4
H1-4
H1.4 linker histone, cluster member 0.682 0.385 0.19
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81
zinc finger protein 81 0.705 0.385 0.55
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 51256
Gene Symbol: TBC1D7
TBC1D7
TBC1 domain family member 7 0.729 0.385 2.9E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.620 moderate 1.000 0 0 2013 2014
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
chromosome X open reading frame 56 0.705 0.385 0.95
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6911
Gene Symbol: TBX6
TBX6
T-box transcription factor 6 0.659 0.385 6.8E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41
zinc finger protein 41 0.711 0.385 3.5E-02
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 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: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
zinc finger protein 711 0.691 0.423 0.98
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8
alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 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: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 10329
Gene Symbol: RXYLT1
RXYLT1
ribitol xylosyltransferase 1 0.633 0.462 1.1E-06
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
WD repeat domain 81 0.670 0.462 6.7E-08
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0