Source: BEFREE

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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease 0.100 None 0.957 23 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease 0.100 None 0.952 21 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease 0.100 None 0.952 21 0 2000 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0265931
Disease: Persistent left superior vena cava
Persistent left superior vena cava 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 1.000 60 0 2003 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group 0.100 None 0.957 46 0 1999 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.100 None 0.971 34 0 2002 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.100 None 0.971 34 0 2002 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group 0.100 None 0.962 26 0 2004 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 1.000 21 0 2005 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.100 None 1.000 19 0 2005 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		disease 0.090 None 1.000 9 0 2009 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease 0.050 None 1.000 5 0 2009 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease 0.050 None 1.000 5 0 1999 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease 0.050 None 0.800 5 0 1997 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.050 None 1.000 5 0 2011 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease 0.040 None 1.000 4 0 2010 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.040 None 1.000 4 0 2007 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.040 None 0.750 4 0 1997 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease 0.040 None 0.750 4 0 1997 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease 0.030 None 1.000 3 0 2005 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group 0.030 None 1.000 3 0 2006 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		disease 0.030 None 1.000 3 0 1999 2019