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: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 0 1999 2019
Entrez Id: 27125
Gene Symbol: AFF4
AFF4 		AF4/FMR2 family member 4 0.644 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		ATP/GTP binding protein 1 0.650 0.538 0.42
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		angiotensin II receptor type 2 0.496 0.808 8.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 191
Gene Symbol: AHCY
AHCY 		adenosylhomocysteinase 0.582 0.692 3.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		AT-hook DNA binding motif containing 1 0.700 0.500 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2014 2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1 		aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.566 0.769 3.0E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1 		aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1 		aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 0 0 2013 2013
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		ALG3 alpha-1,3- mannosyltransferase 0.644 0.500 3.7E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 29929
Gene Symbol: ALG6
ALG6 		ALG6 alpha-1,3-glucosyltransferase 0.805 0.231 3.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9 		ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 91801
Gene Symbol: ALKBH8
ALKBH8 		alkB homolog 8, tRNA methyltransferase 0.716 0.423 2.0E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 None 1.000 0 0 2019 2019