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: 9820
Gene Symbol: CUL7
CUL7 		cullin 7 0.633 0.500 2.6E-21
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		short stature homeobox 0.561 0.654 0.67
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 6154
Gene Symbol: RPL26
RPL26 		ribosomal protein L26 0.695 0.423 0.92
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C 		RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4 		spalt like transcription factor 4 0.489 0.769 1.00
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 567
Gene Symbol: B2M
B2M 		beta-2-microglobulin 0.447 0.846 0.56
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3 		ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 9469
Gene Symbol: CHST3
CHST3 		carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4 		RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 83990
Gene Symbol: BRIP1
BRIP1 		BRCA1 interacting protein C-terminal helicase 1 0.507 0.731 6.2E-17
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8 		coiled-coil domain containing 8 0.599 0.692 0.25
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 7704
Gene Symbol: ZBTB16
ZBTB16 		zinc finger and BTB domain containing 16 0.545 0.808 1.00
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 7516
Gene Symbol: XRCC2
XRCC2 		X-ray repair cross complementing 2 0.512 0.731 4.0E-07
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0
Entrez Id: 55120
Gene Symbol: FANCL
FANCL 		FA complementation group L 0.551 0.731 5.9E-23
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		phenotype 0.100 None 0 0