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: 100033413
Gene Symbol: SNORD116-1
SNORD116-1 		small nucleolar RNA, C/D box 116-1 0.682 0.423
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10108
Gene Symbol: MKRN3-AS1
MKRN3-AS1 		MKRN3 antisense RNA 1 0.682 0.423
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1 		Prader Willi/Angelman region RNA 1 0.490 0.769
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23742
Gene Symbol: NPAP1
NPAP1 		nuclear pore associated protein 1 0.670 0.500
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 338433
Gene Symbol: SNORD115-1
SNORD115-1 		small nucleolar RNA, C/D box 115-1 0.682 0.423
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 3653
Gene Symbol: IPW
IPW 		imprinted in Prader-Willi syndrome 0.682 0.423
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4570
Gene Symbol: TRNN
TRNN 		tRNA 0.682 0.577
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		tRNA 0.563 0.731
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI 		hydatidiform mole associated and imprinted 0.670 0.538
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 791114
Gene Symbol: PWRN1
PWRN1 		Prader-Willi region non-protein coding RNA 1 0.670 0.500
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ 		multiple PDZ domain crumbs cell polarity complex component 0.638 0.500 5.8E-38
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 54809
Gene Symbol: SAMD9
SAMD9 		sterile alpha motif domain containing 9 0.606 0.808 1.1E-33
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 11280
Gene Symbol: SCN11A
SCN11A 		sodium voltage-gated channel alpha subunit 11 0.666 0.462 6.9E-26
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0