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: 7355
Gene Symbol: SLC35A2
SLC35A2 		solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		N-sulfoglucosamine sulfohydrolase 0.638 0.692 1.0E-04
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 2
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		glutamine rich 1 0.716 0.423 1.00
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 1890
Gene Symbol: TYMP
TYMP 		thymidine phosphorylase 0.495 0.769 1.2E-04
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 2
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		phenotype 0.100 None 0 1