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: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.130 None 1.000 0 0 2005 2013
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: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
family with sequence similarity 111 member A 0.663 0.462 2.2E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
Rac family small GTPase 1 0.429 0.962 0.76
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
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: 51114
Gene Symbol: ZDHHC9
ZDHHC9
zinc finger DHHC-type palmitoyltransferase 9 0.670 0.577 0.74
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5063
Gene Symbol: PAK3
PAK3
p21 (RAC1) activated kinase 3 0.569 0.731 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2
receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 4841
Gene Symbol: NONO
NONO
non-POU domain containing octamer binding 0.554 0.731 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0