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: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		histone deacetylase 8 0.511 0.885 0.98
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 50485
Gene Symbol: SMARCAL1
SMARCAL1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 0.599 0.654 2.3E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B 		lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 51132
Gene Symbol: RLIM
RLIM 		ring finger protein, LIM domain interacting 0.686 0.500 0.99
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		actin like 6B 0.656 0.462 2.8E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A 		ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 9969
Gene Symbol: MED13
MED13 		mediator complex subunit 13 0.711 0.538 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.400 moderate 1.000 0 1 2018 2018
Entrez Id: 54499
Gene Symbol: TMCO1
TMCO1 		transmembrane and coiled-coil domains 1 0.588 0.654 9.4E-10
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 4
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		ASXL transcriptional regulator 2 0.617 0.692 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		fatty acid 2-hydroxylase 0.573 0.654 0.15
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 3
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		ubiquitin like modifier activating enzyme 5 0.582 0.731 2.5E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 5
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 867
Gene Symbol: CBL
CBL 		Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1