SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2018 2019
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2005 2005
CUI: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		disease Congenital Abnormality 3 0.010 None 1.000 1 2016 2016
CUI: C2347613
Disease: Childhood Atypical Teratoid/Rhabdoid Tumor
Childhood Atypical Teratoid/Rhabdoid Tumor 		disease Neoplastic Process 28 0.010 None 1.000 1 2018 2018
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2013 2013
CUI: C4082761
Disease: Abnormality of limb bone morphology
Abnormality of limb bone morphology 		disease Anatomical Abnormality 3 0.010 None 1.000 1 2005 2005
CUI: C4330667
Disease: Medulloblastoma, Non-WNT/Non-SHH
Medulloblastoma, Non-WNT/Non-SHH 		disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2017 2017
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2017 2017
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2017 2017
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2017 2017
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.010 None 1.000 1 2017 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2020 2020
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		phenotype Finding 89 11 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal 		phenotype Finding 5 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1840238
Disease: Midnasal stenosis
Midnasal stenosis 		phenotype Finding 16 0.100 None 0
CUI: C1845108
Disease: Prominent median palatal raphe
Prominent median palatal raphe 		phenotype Finding 1 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0